AIX-MARSEILLE UNIVERSITE ÉCOLE DOCTORALE DES SCIENCES DE LA VIE ET DE LA SANTÉ FACULTÉ DE MÉDECINE DE MARSEILLE Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), UMR 63, CNRS 7278, IRD 198, Inserm 1095 Thèse présentée pour obtenir le grade universitaire de docteur Discipline : Pathologie Humaine Spécialité : Maladies Infectieuses Rezak DRALI Poux humains : Différenciation, distribution phylogéographique, Host-Switching et contrôle Soutenue le 15 Décembre 2014 devant le jury : Mr le Professeur Pierre MARTY Président du Jury/Rapporteur Mr le Docteur Rapporteur Arezki IZRI Mr le Professeur Philippe BROUQUI Directeur de thèse Mr le Professeur Didier RAOULT Co-directeur de thèse 1 À Tassadit, mon épouse. Merci pour ton soutien indéfectible À ma mère À mes enfants Taous, Mokrane et Ania. 3 Sommaire Avant-propos 7 Résumé 8 Abstract 11 Introduction générale 15 Revue: Taxonomy, lifestyle and current genetic advances of primate’s lice. 23 Chapitre 1: Différenciation pou de tête - pou de corps 59 Article I: Distinguishing Body Lice from Head Lice by Multiplex 63 Real-Time PCR Analysis of the Phum_PHUM540560 Gene. Article II: Bartonella quintana in body lice from scalp hair 75 of homeless persons, France. Article III: Detection of Bartonella quintana in African 81 Body and Head Lice. Chapitre 2: Distribution phylogéographique des poux 91 humains contemporains et anciens. Article IV: A New Clade of African Body and Head Lice Infected 95 by Bartonella quintana and Yersinia pestis – Democratic Republic of the Congo. Article V: Studies of ancient lice reveal unsuspected past 107 migrations of vectors. Article VI: Evidence of sympatry of Clade A and Clade B head lice 119 in a pre-Columbian Chilean mummy from Camarones. Chapitre 3: Host-Switching 127 Article VII: Host switching of human lice to New World monkeys 131 in Amazonia 5 Chapitre 4: Détection et monitoring de la résistance moléculaire 161 des poux de corps à la perméthrine Article VIII: Detection of a knockdown resistance mutation 165 associated with permethrin resistance in the body louse Pediculus humanus corporis by use of melting curve analysis genotyping. Article IX: Effect of permethrin-impregnated underwear on 177 body lice in sheltered homeless persons: a randomized controlled trial. Conclusions et perspectives 189 Références 191 Annexes 201 Article X: Matrix-Assisted Laser Desorption Ionization– 203 Time of Flight Mass Spectrometry for Rapid Identification of Tick Vectors. Mini review: Typhus in World War I. 213 Remerciements 219 6 Avant-propos Le format de présentation de cette thèse correspond à une recommandation de la spécialité Maladies Infectieuses et Microbiologie, à l’intérieur du Master des Sciences de la Vie et de la Santé qui dépend de l’Ecole Doctorale des Sciences de la Vie de Marseille. Le candidat est amené à respecter des règles qui lui sont imposées et qui comportent un format de thèse utilisé dans le Nord de l’Europe et qui permet un meilleur rangement que les thèses traditionnelles. Par ailleurs, la partie introduction et bibliographie est remplacée par une revue envoyée dans un journal afin de permettre une évaluation extérieure de la qualité de la revue et de permettre à l’étudiant de commencer le plus tôt possible une bibliographie exhaustive sur le domaine de cette thèse. Par ailleurs, la thèse est présentée sur article publié, accepté ou soumis associé d’un bref commentaire donnant le sens général du travail. Cette forme de présentation a paru plus en adéquation avec les exigences de la compétition internationale et permet de se concentrer sur des travaux qui bénéficieront d’une diffusion internationale. Professeur Didier RAOULT 7 Résumé Les poux hématophages de primates sont des ectoparasites spécifiques de leurs hôtes avec qui ils ont Co évolué depuis environ 25 millions d’années. Ceux infestant l’Homme sont sans doute les mieux étudiés, particulièrement le pou de tête (Pediculus humanus capitis) et le pou de corps (Pediculus humanus humanus). Ce sont deux écotypes indiscernables occupant chacun une niche écologique: les cheveux pour le pou de tête et les vêtements pour le pou de corps. La pédiculose due au pou de tête touche chaque année des centaines de millions d'enfants à travers le monde nonobstant la classe sociale à laquelle ils appartiennent alors que le pou de corps infeste spécialement les populations n’ayant pas un accès facile aux conditions standard d’hygiène, telles les sans-abri, les prisonniers et les réfugiés de guerre. Le pou de corps représente une menace réelle pour l’Homme en raison de son rôle de vecteur dans la transmission de trois maladies graves ayant tué des millions de personnes à travers l’histoire de l’humanité à savoir : le typhus épidémique, la fièvre des tranchées et la fièvre récurrente causées par Rickettsia prowazekii, Bartonella quintana, et Borrelia recurrentis respectivement. Le pou 8 de corps est également soupçonné dans la transmission d'un quatrième agent pathogène fatidique, Yersinia pestis, l'agent de la peste. L'analyse de ADN mitochondrial a permis de classer les poux humains en trois clades A, B et C où seul le clade A distribué mondialement comprend à la fois des poux de tête et des poux de corps. Durant cette thèse, nous avons voulu apporter des réponses à un certain nombre de questions restées posées à travers le traitement de certaines thématiques qui nous semblaient importantes. Ainsi nous avons cherché à (i) trouver un moyen pour différencier entre le pou de tête et le pou de corps, (ii) en savoir d’avantage sur la distribution phylogéographique mondiale des poux humains, (iii) étudier les poux anciens pour nous aider à comprendre la circulation des vecteurs, la circulation des agents pathogènes transmis par ces vecteurs et les flux migratoires des hôtes de ces vecteurs, (iv) étudier le phénomène de Host-Switching à travers P. mjobergi le poux de singe du Nouveau Monde et (v) trouver un moyen efficace de contrôle des poux de corps infestant les sans-abri à Marseille à travers la détection et le monitoring de la résistance des poux aux insecticides. Nous avons obtenu des résultats concrets dans chacune des thématiques abordées, résultats par ailleurs valorisés par des 9 publications scientifiques. En effet, nous avons (i) mis en place un outil moléculaire qui permet de différencier pour la première fois entre le pou de tête et le pou de corps qui a montré efficacité sur le terrain, (ii) mis en évidence l’existence d’un nouveau clade mitochondrial (Clade D) renfermant des poux de tête et des poux de corps susceptible de vectoriser B. quintana et Y. pestis, (iii) retracé les migrations humaines à travers l'analyse de poux anciens provenant de différentes périodes et localisations, (iv) démontré pour la première fois que P. mjobergi est génétiquement proche du pou humain et confirmé l’hypothèse qu’à l’origine P. mjobergi était un pou humain qui a été transféré aux singes du Nouveau Monde par les premiers Hommes à avoir atteint le continent américain il y a des milliers d’années et (v) mis en place un outil de détection et de contrôle de la résistance moléculaire des poux à la perméthrine. Cet outil fut particulièrement utile dans l'étude clinique que nous avons menée pour déterminer si l'utilisation de sous-vêtements imprégnés d'insecticide offrait une protection efficace à long terme contre les poux de corps infestant les personnes sans-abri. Mots clés : pou de tête, pou de corps, différenciation, distribution phylogéographique, poux anciens, Host-Switching, contrôle des poux. 10 Abstract Primate sucking lice are obligate host-specific parasites that have Co evolved with their hosts for over 25 million years. Lice infesting humans are probably the best studied, particularly head louse (Pediculus humanus capitis) and body louse (Pediculus humanus humanus). These are two indistinguishable ecotypes each occupying an ecological niche: hair for head louse and clothing for the body louse. Pediculosis due to head louse affects each year hundreds of millions of children worldwide despite the social class to which they belong while body louse infests especially populations that have not ready access to standard conditions of hygiene, such as the homeless, prisoners and war refugees. Body louse represents a real threat to humans because of its role as vector for the transmission of three deleterious diseases that have killed millions of people, namely epidemic typhus, trench fever and relapsing fever caused by Rickettsia prowazekii, Bartonella quintana, and Borrelia recurrentis respectively. The body louse is also suspected in the transmission of a fourth fateful pathogen, Yersinia pestis, the agent of plague. Mitochondrial DNA allowed the classification of human lice in three 11 clades designed A, B and C where only clade A that is distributed worldwide comprises both head and body lice. During my PhD, some thematic that seemed important have been addressed. Thus we aimed to (i) find a way to differentiate between human head and body lice, (ii) learn more about the worldwide phylogeographic distribution of lice (iii) study of ancient human lice which can help to understand the circulation of vectors, the flow of vector-borne pathogens and the migratory flu hosts of these vectors, (iv) study the host-switching phenomenon through P. mjobergi the lice that parasite New World monkeys and (v) find an efficient way to control body lice infesting homeless people in Marseille. In each of these issues, we obtained concrete results that have led to scientific publications. Indeed, we (i) implemented a molecular tool to differentiate for the first time between head and body louse, (ii) we highlighted the existence of a fourth mitochondrial clade (Clade D) comprising head and body lice that can vectorize B. quintana and Y. pestis, (iii) we traced human migration through the analysis of ancient lice from different periods and different area, (iv) we demonstrated for the first time that P. mjobergi is genetically close to human louse and confirmed the hypothesis that initially P. mjobergi was a human louse 12 has been transferred to New World monkeys by the first humans who have reached the American continent thousands of years ago and (v) we have implemented a tool for detecting and monitoring the molecular resistance to permethrin of body lice that parasite sheltered homeless persons in Marseille. This tool was particularly useful in the clinical study we conducted to determine whether the use of longlasting insecticide–treated underwear provides effective long-term protection against body lice in homeless persons. Keywords: head louse, body louse, differentiation, phylogeographic distribution, ancient lice, host-switching, lice control. 13 Introduction générale Les poux (Insecta: Phthiraptera) sont des ectoparasites obligatoires des oiseaux et des mammifères. A ce jour, environ 4.900 espèces ont été répertoriées et réparties dans quatre sous-ordres: d’une part les poux mâcheurs (chewing / biting lice) comprenant les Rhynchophthirina, les Ischnocera et les Amblycera et d’autre part les anoploures (Anoplura) suceurs de sang [1]. Les données morphologiques [2] combinées aux données moléculaires [3] ont montré qu'il y avait une relation para phylétique entre les poux mâcheurs et les anoploures. La récente découverte de deux fossiles de poux, le premier vieux de 44 millions d’années parasitait les oiseaux [4] et le second 100 millions d’années appartenaient à la famille Liposcelididae [5] a permis d’estimer l’âge des poux à plusieurs millions d’années. Les méthodes de datation moléculaire ont démontré que les poux ont survécu à la grande extinction des espèces du Crétacé-Paléogène (K-Pg) survenue il y’a 65 millions d’années [6]. Aptères et ne possédant pas d’hôte intermédiaire, les poux ont dû Co évoluer et s’adapter au microenvironnement de leur hôte. De ce fait, la transmission des poux s’effectue lors des contacts directes entre hôtes conspécifiques [7]. 15 Le processus de cospeciation hôtes-parasites est exemplifié à travers la relation des poux avec leurs hôtes [8], cependant ce processus n’est pas toujours parfait comme énoncé dans la règle de Fahrenholz qui édicte que les phylogénies des parasites et de leurs hôtes doivent se refléter l’une et l’autre [9]. Parfois, cette association est marquée par une série d'événements historiques tels le changement d'hôte “hostswitching” ou encore la duplication du parasite [10,11]. A juste titre, le phénomène de host-switching a été rapporté deux fois chez les primates. D’abord en 1938, lorsque Ewing a suggéré que Pediculus mjobergi le pou des singes du Nouveau Monde était à l'origine un pou humain (P. humanus) transmis par les premiers Hommes ayant traversé le détroit de Béring il y'a quelques milliers d'années [12]. Puis, en 2007, lorsque Reed et al. suggérèrent que l’Homme avait hérité de Pthirus pubis, le pou du pubis, à travers les contacts directs ayant eu lieu entre gorilles et hominidés archaïques il y’a environ 3 millions d’années [13]. Les poux du genre Pediculus infestant l’Homme sont les mieux étudiés en raison notamment de l’intérêt médical qu’ils suscitent. Ce genre fut initialement établit par Linnaeus en 1758. Deux décennies plus tard en 1778, De Geer proposa les nomenclatures Pediculus 16 capitis de Geer 1778 et Pediculus corporis de Geer 1778 pour différencier le pou de tête du pou de corps [14]. Hopkins en 1952 a proposé une nomenclature qu’il souhaitait finale eu égard au foisonnement d’appellations données aux poux: Pediculus humanus humanus Linnaeus, 1758 pour le pou de corps et Pediculus humanus capitis de Geer 1778 pour le pou de tête [15]. Le pou de tête vit et se multiplie sur les cheveux alors que le pou de corps occupe une niche écologique différente, à savoir les plis et les coutures de vêtements [14]. La pédiculose due au pou de corps est très répandue parmi les populations précaires telles les pauvres, les sansabri, les prisonniers et les réfugiés de guerre [16], tandis que les poux de tête affectent des centaines de millions d'écoliers à travers le monde indépendamment des conditions d'hygiène causant du prurit et une perte de sommeil dans certains cas [17]. Plusieurs études comparatives basées sur des critères morphologiques ont été réalisées sans pour autant avoir réussi à différencier entre le pou de tête et le pou de corps. Dès 1919, Nuttall concluait déjà que les deux écotypes appartenaient à la même espèce puisque les deux écotypes ne présentaient aucune différence concernant les points essentiels [18]. 17 Durant un laps de temps, la pigmentation des poux fut en débat. En 1917, Hindle à partir de ses expériences de croisement/sélection avait conclu que la pigmentation des poux était un caractère héréditaire [19]. Hypothèse réfutée par Nuttall en 1919 puis Ewing en 1926 qui considéraient que la pigmentation des poux adultes était due à la couleur du fond (background) utilisée durant les différents stade de développement larvaire [20,21]. Plus récemment, une étude comparant les données phénotypiques et génotypiques des poux d’origine Africaine avait montré qu’il n’existait aucune concordance entre la couleur et le génotype des poux [22]. L’analyse moléculaire des gènes mitochondriaux a permis d’inférer une classification phylogéographique robuste de Pediculus humanus. En effet, les poux humains du genre Pediculus ont été classés dans trois clades A, B et C où seul le Clade A distribué à travers le monde comprend aussi bien des poux de tête que des poux de corps [23]. Le Clade B comprenant des poux de tête retrouvés jusqu’ici sur le continent américain, en Europe de l’ouest, en Australie et en Algérie. Le Clade C a été retrouvé au Népal, en Ethiopie et au Sénégal [24]. L’analyse moléculaire de gènes mitochondriaux des poux récupérés sur des momies précolombiennes a montré que la présence des Clades 18 A et B sur le continent Américain était antérieure à l'arrivée des colons européens [25,26]. Ce qui renforce l’hypothèse selon laquelle le Clade B a une origine Américaine qui par la suite a été redistribué dans le vieux monde par les colons ayant regagné l’Europe [24]. La taille prédictive du génome de P. humanus (108 Mb) faisait de lui un excellent candidat au séquençage du génome [27]. En 2010, Kirkness et al. [28] publiaient une première version du génome du pou de corps et de son endosymbiont Candidatus Riesia pediculicola. Ce génome renferme 10.773 gènes codants parmi lesquels 163 étaient spécifiques à P. humanus [28]. La comparaison du profil transcriptionnel des poux de tête et de corps avait révélé que les deux écotypes avaient le même nombre de gènes excepté le gène phum_PHUM540560 absent chez le pou de tête [29] . A ce jour, seul le pou de corps est reconnu comme vecteur de trois maladies délétères ayant tué des millions de personnes à travers l’histoire de l’humanité qui sont le typhus épidémique, la fièvre des tranchées et la fièvre récurrente causées par Rickettsia prowazekii, Bartonella quintana et Borrelia recurrentis respectivement [30]. Le pou de corps est également soupçonné dans la transmission d'un quatrième agent pathogène mortel, Yersinia pestis, l'agent de la peste 19 [31,32]. Au cours des dernières années, l'ADN de B. quintana a été détecté chez les poux de tête de Clade A [16,32–34] et de Clade C [35,36], l'ADN de B. recurrentis chez les poux de tête de Clade C [37]. Avant l'avènement des pédiculicides, le contrôle des poux était basé sur les moyens physiques tel le peignage, l’épouillage à la main, le rasage et le blanchiment de vêtements [38]. Au cours des dernières décennies, différentes molécules chimiques ont été développées pour lutter contre la pédiculose. Malheureusement les poux ont pu développer une résistance contre la plupart de ces molécules [39]. L’ivermectine semble donner de bons résultats dans le traitement des poux de tête [40] bien qu’une résistance potentielle à cette molécule eut été démontrée dans des conditions de laboratoire [41]. Durant cette thèse nous avons voulu apporter notre contribution dans le domaine de la recherche sur les poux humains. Ainsi, nous avons commencé par rédiger une revue de littérature intitulée « The lice of primates » pour donner un aperçu sur le positionnement phylogénétique des poux humains au sein des anoploures. Nous avons organisé ce manuscrit de thèse autour de 4 chapitres couvrant chacun une thématique différente à savoir (1) la différenciation entre le pou de tête et le pou de corps, (2) la 20 distribution phylogéographique des poux humains contemporains et anciens, (3) étude du phénomène de Host-Switching et (4) la détection et le monitoring de la résistance moléculaire des poux de corps à la perméthrine. 21 Revue de littérature: Taxonomy, Lifestyle and Current Genetic Advances of Primate’s Lice Revue proposée au journal Annual Review of Entomology 23 Taxonomy, Lifestyle and Current Genetic Advances of Primate’s Lice 1 2 Rezak Drali1 and Didier Raoult1 3 4 5 6 1 Aix Marseille Université, URMITE, UM63, CNRS 7278, IRD 198, Inserm 1095, 27 Boulevard Jean Moulin 13005 Marseille, France 7 8 Corresponding author: Raoult, D. (mailto:didier.raoult@gmail.com) 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 Keywords: lice, primates, co evolution, host-switching 1 25 25 Abstract 26 The relationship between lice (Insecta: Phthiraptera) and their host, birds and mammals, is 27 very old, it dates back to tens of millions of years. Thus, their status as obligate parasite 28 makes lice remarkable markers of the evolution of their hosts. On the other hand, among the 29 4,900 species of lice identified, only the human body louse Pediculus humanus humanus, is 30 known to be a vector of three serious diseases that killed millions of people throughout the 31 history of mankind. Here we reviewed the various studies that targeted lice parasitizing 32 primates, with particular attention to human lice of the genus Pediculus. We also provided an 33 overview on the current taxonomy of primates. 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 2 26 50 Lice 51 Lice (Phthiraptera) are permanent obligate parasitic insects that infest birds and mammals. 52 They are about 4,900 known species distributed into four suborders: chewing or biting lice 53 including Rhynchophthirina, Ischnocera and Amblycera; sucking lice grouped under the name 54 of Anoplura (Johnson et al., 2004). The morphological data (Lyal, 1985a) supported by 55 molecular evidences (Barker et al., 2003) showed that there was a paraphyletic relation 56 between the chewing lice and Anoplura . The discovery of two rare fossils allowed estimating 57 the age of lice to about tens millions of years. Indeed, the first fossil that parasitized birds was 58 44 million years and the second was 100 million years and belongs to family Liposcelididae, 59 commonly called book-louse, a close relatives to parasitic lice (Grimaldi and Engel, 2006). 60 Molecular dating methods showed that the radiation of the louse suborders started before the 61 mass extinctions of species 65 million years ago (Ma), corresponding to Cretaceous- 62 Paleogene (K-Pg) boundary (Smith et al., 2011). 63 Because they are wingless and have no intermediate hosts, lice coevolved with their host to 64 adapt to its microenvironment and the transmission of lice occurs mostly through direct 65 contact between conspecific hosts (Barker, 1991). Lice are probably the most successful 66 pattern of host-parasite cospeciation (Hafner and Nadler, 1988), however, the cospeciation 67 process is not always perfect as stated in Farenholz's rule which enacts that host and parasite 68 phylogenies should mirror each other (Brooks, 1979). Occasionally this association is marked 69 by a range of historical events such as host switching, parasite duplication, sorting event and 70 failure of the parasite to speciate in response to host speciation (Johnson et al., 2003;Page and 71 Charleston, 1998). 72 Rightly in primates, the host-switching phenomenon has been described at least twice. Firstly 73 in 1938 when Ewing suggested that Pediculus mjobergi the louse parasitizing New World 74 monkeys was originally a human louse (P. humanus) transmitted to the monkey by the first 3 27 75 humans who crossed the Bering Strait it there's thousands of years (Ewing, 1938). Hypothesis 76 we have also confirmed thanks to the molecular analysis of howler monkey lice from 77 Argentina – South America (Drali, unpublished data). Then in 2007 when Reed et al. based 78 on molecular and phylogenetic analyzes suggested that the presence of the genus Pthirus in 79 humans would be the result of host-switching from archaic gorillas to archaic hominids 80 roughly 3 Mya throughout direct contact between them (Reed et al., 2007). 81 Characteristics 82 Lice 83 Hemimetabolous, they pass through three nymphal stages before becoming adults (Lyal, 84 1985a). The mouthparts consist of mandibles for chewing lice allowing them to feed upon the 85 skin (feathers, fur, and squamae) and sometimes the blood of their hosts, and stylet (piercing 86 mouthparts) for sucking lice (Johnson and Clayton, 2003;Light et al., 2010). Initially, the 87 sucking lice ancestors lived free in burrows and nests of vertebrates and have chewing 88 mouthparts (Light et al., 2010;Lyal, 1985a). The development of mouthparts allowing some 89 of these lice to take blood meals has created a dependence on their hosts and thus have 90 become obligate parasites (Light et al., 2010). The tibiotarsal claws of sucking lice have 91 adapted for grasping host hairs (Durden, 2001). 92 Unlike the chewing lice, that have large heavily sclerotized heads that are as wide as the 93 prothorax, sometimes wider, the sucking lice have heads that are narrower than their 94 prothorax. Yet, Rhynchophthirina belonging to chewing lice group constitute an exception 95 with their mandibles that are worn at the end of a long snout which enables them to penetrate 96 the thick skin of their host to feed (Johnson and Clayton, 2003). 97 Classification 98 Phthiraptera would be derived from original Pscopteran-like ancestor is divided into two 99 groups the chewing lice and the sucking lice (Johnson et al., 2004). About 4400 species are wingless, dorsoventrally flattened insects (Price and Graham, 1997). 4 28 100 compose the group of chewing lice which includes three major families: Amblycera (1182 101 species of bird lice and 162 species of mammal lice), Ischnocera (2683 species of bird lice 102 and 377 species of mammal lice) and Rhynchophthirina (3 species of mammal lice confined 103 to elephants and pigs) (Cruickshank et al., 2001). The Anoplura group comprises about 540 104 species that parasitize mammals exclusively, two-third are parasites of rodents (Durden and 105 Musser, 1994b). Concerning the primates (Mammalia), of the 78 genera recognized, including 106 our own species (Finstermeier et al., 2013), 61.7% are parasitized by lice. Among these, 107 53.3% are parasitized by sucking lice, 13.3% by chewing lice and 5% by both sucking and 108 chewing lice (Light, 2005). 109 Behaviors 110 Lice usually do not leave their hosts without which they can only survive a short period (two 111 days) (Barker, 1994;Johnson and Clayton, 2003). The females lay eggs on the fur, hair or 112 feathers of their hosts at a suitable temperature until hatching for avoiding desiccation and 113 other physical factors (Price and Graham, 1997). Lice move to conspecific host when the 114 latter is in close contact, but exceptionally they can cling to the abdomen of haematophagous 115 flying insects to reach to another host (phoresis) (Durden, 1990;Harbison and Clayton, 2011). 116 Usually, chewing lice parasitize only a single species of hosts at a time (Johnson and Clayton, 117 2003). 118 Ecology 119 Of the 4400 species of chewing lice identified, 550 are hosted by mammals (Cruickshank et 120 al., 2001). The primates are parasitized by four genera of chewing lice among which three 121 belong to Ischnocera and the fourth belongs to Amblycera (Table 1). 122 Sucking lice are about 540 known species distributed in 50 genera and 15 families that spread 123 worldwide (Light et al., 2010). 5 29 124 Six genera of sucking lice were found in primates. Three belong to the family Polyplacidae 125 and the three other genera, each belonging to a different family, namely Pediculidae, 126 Pedicinidae and Pthiridae (Table 1) (Durden and Musser, 1994b;Price and Graham, 1997). 127 Among the 29 orders of mammals that are distributed in 153 families, 1,200 genera and 5,400 128 species (Wilson and Reeder, 2005), eight orders are not known to harbor sucking lice 129 including Monotremata, Marsupialia, Xenarthra, Pholidota, Chiroptera, Cetacea, Proboscidea, 130 and Sirenia (Kim, 2006). 131 Phylogeny of lice 132 The molecular phylogeny of lice was inferred after the analysis of 18S rRNA sequences in 33 133 species (Barker et al., 2003). This analysis showed that Amblycera is the sister-group to all 134 other lice but the Rhynchophthirina is sister to the Anoplura. Ischnocera is sister to the 135 Rhynchophthirina and Anoplura, which gives the following configuration (Amblycera 136 (Ischnocera (Anoplura, Rhynchophthirina))) (Barker et al., 2003) (Figure 1). 137 Primates (Mammalia) 138 Primates, term meaning "prime, first rank", represent an order of mammals, including 139 humans, apes, monkeys and prosimians (Wilson and Reeder, 2005). Arboricoles for the most 140 part, primates live in tropical forests. There are nevertheless partially terrestrial species such 141 as baboons or fully terrestrial species such as geladas and humans (Reed and Fleagle, 1995). 142 Until recently, the taxonomy of primates has undergone many changes. Today based on 143 mitogenomic phylogeny, primates including our own species comprise 480 species distributed 144 in 78 genera originated from a common ancestor during the Cretaceous/Paleocene boundary 145 approximately 80 to 90 Mya (Finstermeier et al., 2013;Perelman et al., 2011). Three suborders 146 compose primate’s order: Strepsirrhini, Tarsiiformes and Simiiformes (Perelman et al., 2011). 147 148 6 30 149 Strepsirrhini 150 Strepsirrhini include Lorisiformes (galagos, pottos, and lorises), Chiromyiformes (Malagasy 151 aye-aye) and Lemuriformes (Malagasy lemurs) (Roos et al., 2004). Insectivores, Strepsirrhini 152 are provided with a tail covered with fur, they have an elongated hairless and wet nose and 153 round eyes adapted to nocturnal activities. They have large mobile ears, sensitive tactile hairs 154 and a strong sense of smell (Mittermeier et al., 1999). Strepsirrhini characterizes mainly from 155 other primates by the presence of a toothcomb to the front of their teeth that consists of four 156 incisors and two canines, all elongated and facing forward. The dental comb is used to 157 retrieve the gum trees on which they feed, but also for grooming/delousing (Seiffert et al., 158 2003). The habitat of Strepsirrhini overlaps two continents, Africa and Asia. Lorises are found 159 in equatorial Africa and Southeast Asia, the galagos in sub-Saharan African forests and the 160 Lemurs are endemic in Madagascar (Mittermeier et al., 1999). However, based on the results 161 obtained by the analysis of short interspersed elements (SINEs) combined with complete 162 mitochondrial cytochrome b sequences from all recognized strepsirrhine genera, Roos and 163 collaborators conclude that strepsirrhines originated from Africa and that Madagascar and 164 Asia were colonized by respective single immigration events (Roos et al., 2004). 165 Tarsiiformes (tarsiers) 166 Tarsiiformes are small nocturnal primates, including three genera (Tarsius, Cephalopachus 167 and Carlito) allopatrically distributed in the islands of Southeast Asia (Groves and Shekelle, 168 2010). Their weight varies between 80 and 150 g, they have round heads with very large eyes 169 that are directed forward and very mobile ears (Ankel-Simons, 2000). 170 For a long time, the position of Tarsiiformes relative to Strepsirrhini and Anthropoidea in the 171 phylogeny of primates was unclear (Yoder, 2003). Finally, the mitochondrial genome analysis 172 allowed to resolve the issue by showing the subdivision of primates into infra-orders 7 31 173 Strepsirrhini and Haplorhini, with tarsiers as sister group of Anthropoidea (Finstermeier et al., 174 2013). 175 Simiiformes 176 Composed of Platyrrhini (New World monkeys) and Catarrhini that include Cercopithecoidea 177 (Old World monkeys) and Hominoidea (great apes and gibbons) (Perelman et al., 2011). 178 Platyrrhini 179 Platyrrhini comprises 5 families, 6 subfamilies, 19 genera, and 199 species that occupy large 180 areas in Central and South America (Rylands and Mittermeier, 2009). Callitrichidae, Cebidae 181 (Cebinae and Saimiriinae), Aotidae, Pitheciidae (Pitheciinae and Callicebinae) and Atelidae 182 (Alouattinae and Atelinae) compose the five families (Rylands and Mittermeier, 2009). 183 The shape of their nose earned them the name of Platyrrhini meaning "flatted nose" (Laitman, 184 2011). Their body size is extremely variable (about a factor of 100): 120 grams for the pygmy 185 marmoset (Cebuella pygmaea) and 10-12 kg for the muriqui (Brachyteles arachnoides) and 186 gray woolly monkey (Lagothrix cana) (Di Fione and Campbell, 2007). Platyrrhini are 187 provided with a long prehensile tail that can be controlled and used to hold onto branches 188 (Schmitt et al., 2005). According to performed studies, Platyrrhini separated from Catarrhini 189 during the Eocene about 45 million years ago (Finstermeier et al., 2013;Perelman et al., 190 2011). The arrival of Platyrrhini the in the American continent remains ambiguous however, 191 the phylogeny resolves the relative divergence pattern among families members from a 192 common ancestor about 20 million years (Hodgson et al., 2009). 193 Catarrhini 194 Catarrhini includes Cercopithecoidea (Old World monkeys) and Hominoidea (great apes and 195 gibbons) (Perelman et al., 2011). 196 197 8 32 198 Cercopithecoidea 199 Named Old World monkeys in opposition to the New World monkeys, Cercopithecoidea are 200 distributed mainly in Africa and Asia (Rowe et al., 1996). As for Platyrrhini, they owe their 201 name to the form of their nose whose openings and directed downwardly (Groves, 1993). 202 Cercopithecidae includes two extant subfamilies, Colobinae (the leaf-eating monkeys) and 203 Cercopithecinae (the cheek-pouch monkeys) (Groves, 1993). Colobines are arboreal and 204 possess a long nonprehensile tails while cercopithecines have well-developed thumbs and tails 205 of varying lengths (Rowe et al., 1996). The body size of cercopithecines can varies from 1 kg 206 for talapoin (Miopithecus talapoin) to over 37 kg for the large olive baboon (Papio 207 hamadryas anubis) (Rowe et al., 1996). 208 Cercopithecidae comprises 21 genera. 10 belong to subfamily Colobinae in which 7 have an 209 Asian distribution (Nasalis, Simias, Presbytis, Semnopithecus, Trachypithecus, Pygathrix and 210 Rhinopithecus) and 3 have an African distribution (Colobus, Piliocolobus and Procolobus). 211 11 genera belong to subfamily Cercopithecinae that are endemic to Africa with exception of 212 the genus Macaca which is now mainly found in Asia (Allenopithecus, Cercocebus, 213 Cercopithecus, Chlorocebus, Erythrocebus, Lophocebus, Macaca, Mandrillus, Miopithecus, 214 Papio and Theropithecus) (Wilson and Reeder, 2005). 215 Old World monkeys separated from hominoids about 32 Ma and diverged into the subfamilies 216 Cercopithecinae and Colobinae in the Early Miocene (Finstermeier et al., 2013;Perelman et 217 al., 2011). 218 Hominoidea 219 Hominoidea includes two families: Hominidae (great apes) and Hylobatidae (gibbons, small 220 apes) (Perelman et al., 2011). Four extant genera compose the family Hominidae: 221 chimpanzees (Pan), gorillas (Gorilla), orangutans (Pongo), and humans (Homo) (Hirai et al., 222 2012). Orangutans live in Asia, chimpanzees and gorillas in Africa and humans are distributed 9 33 223 worldwide (Rowe et al., 1996). Bipedalism is certainly the most characteristic feature of the 224 Hominidae, though not widely used by African apes which prefer to move on knuckles 225 (Richmond and Strait, 2000). 226 In 1990s, the analysis of whole mitochondrial sequences has allowed showing that humans 227 have a sister relationship with chimpanzees among Hominidae and therefrom, the phylogeny 228 of the Hominidae has been established (Horai et al., 1995). 229 The family Hylobatidae is composed from four genera (Hylobates, Hoolock, Nomascus, and 230 Symphalangus) (Groves, 2005). They live in Southeast Asia (India, China, Malay Peninsula, 231 Java, Borneo, and Sumatra) (Rowe et al., 1996). Given their lower size relative to the other 232 Hominoidea, the name lesser apes was given to the gibbons (Hirai et al., 2012). The four 233 genera of family Hylobatidae are phylogenetically divergent. Indeed, each genus of gibbons is 234 monophyletic (Roos and Geissmann, 2001). 235 Hominoids separated into gibbons (Hylobatidae) and great apes and humans (Hominidae) in 236 the Early Miocene (23 to 5 Mya). Within Hylobatidae, Nomascus separated first (7.8 Mya), 237 followed by the divergence of Symphalangus and Hylobates 6.2 Mya. 238 In Hominidae, orangutans (Pongo) diverged 15.2 MYA from the African great apes and 239 humans, while Gorilla separated from the Homo + Pan Clade 8.4 MYA. Finally, chimpanzees 240 and humans separated in the Latest Miocene, about 5.9 MYA (Finstermeier et al., 241 2013;Perelman et al., 2011). 242 Lice of primates 243 Sucking lice 244 Genus Pediculus 245 Pediculus includes three known species that parasite primates: P. schaeffi the louse of 246 chimpanzees, P. mjobergi the louse of New World monkeys and P. humanus the louse of 247 humans (Durden and Musser, 1994b). 10 34 248 P. schaeffi was described for the first time in 1910 by Fahrenholz thanks to specimens found 249 in monkeys from a zoo in Hamburg, Germany (Durden and Musser, 1994b). P. schaeffi can 250 be found on any part of the body of their host but with a preference for head, groin and 251 armpits (Allen et al., 2013). By using a molecular clock analysis of mtDNA performed studies 252 showed that P. schaeffi diverged from its sister taxon P. humanus about 5.5 million years ago 253 (Kittler et al., 2003;Reed et al., 2004). 254 New World monkeys also harbored louse of the Pediculidae family (Ferris, 1916). Ferris gave 255 the name P. mjobergi to this species in reference to Mjoberg who was the first to describe it in 256 1910 (Ferris, 1951). In a study we have just completed, we reported the case of transfer of 257 human lice to the New World monkeys. Indeed, the morphological examinations and genetic 258 analyzes performed on the P. mjobergi lice collected from the howler monkeys Alouatta 259 caraya have supported these findings (Drali, unpublished Data). 260 Humans, chimpanzees and New World monkeys are not the only ones to harbor lice of the 261 genus Pediculus, in 1951, Ferris inventoried the siamang (Hylobates syndactylus) among the 262 hosts of Pediculus humanus (Ferris, 1951). 263 Pediculus humanus 264 Of lice infesting primates, those parasitizing humans are the best studied particularly head and 265 body lice, Pediculus humanus capitis and Pediculus humanus humanus respectively (Durden 266 and Musser, 1994b). 267 Taxonomy 268 Linnaeus in 1758 was the first who established the genus Pediculus. In 1778, De Geer 269 proposed the nomenclatures P. capitis de Geer 1778 and P. corporis de Geer 1778 to 270 discriminate between head and body louse (De Geer, 1778). Different terminologies have 271 been proposed to name the two variants: P. cervicalis Latreille 1803 and P. consobrinus 272 Piaget 1880 for head louse, P. vestimenti Nitzsch 1818 and P. tabescentium Alt 1824 for body 11 35 273 louse (Nuttall, 1917). In 1952 Hopkins suggested to give the final names: Pediculus humanus 274 humanus Linnaeus, 1758 to the body louse and Pediculus humanus capitis de Geer, 1778 to 275 the head louse (Hopkins, 1952). 276 Head and body lice ecotypes 277 The classification and nomenclature of human lice genus Pediculus derived from their 278 ecology. Indeed, the head louse lives, breeds and lays its eggs at the base of the hair of the 279 head while the body louse occupies a different ecological niche namely garments where it 280 lays its eggs in the seams and folds (De Geer, 1778). 281 Several comparative studies based on morphological criteria were conducted without reaching 282 differentiates between head lice and body lice. Early as 1919, Nuttall concluded that the two 283 ecotypes represent the extremes in the variation of the same species since they are 284 undistinguishable in all essential point of structure (Nuttall, 1919c). 285 For a while, pigmentation of lice was under debate. In 1917, Hindle starting from its breeding 286 experiments concluded that the pigmentation in lice is an inherited character (Hindle, 1917). 287 Assumption refuted by Nuttall in 1919 relayed later by Ewing in 1926 who considered that 288 the pigmentation of adult lice is due to the color of background used during nymphal 289 development (Ewing, 1938;Nuttall, 1919b). More recently, a study comparing the phenotypic 290 and genotypic data of human lice from Africa showed that no congruence between louse color 291 and genotype has been identified (Veracx et al., 2012). 292 Pediculosis due to the body louse is prevalent in precarious populations such as poor 293 populations, homeless, prisoners and war refugees (Sangare et al., 2014), while head lice 294 affects hundreds of millions of schoolchildren worldwide regardless hygienic conditions with 295 symptoms that include itching and in some cases loss of sleep (Chosidow et al., 1994). 296 297 12 36 298 Mitochondrial clades 299 Thanks to mitochondrial genes, a robust phylogeographic classification of Pediculus humanus 300 was inferred. Indeed, human lice are distributed into 3 clades designed Clade A, B and C 301 where only Clade A that is spread worldwide includes both head and body lice (Reed et al., 302 2004). Clade B comprises head lice found in the Americas, Western Europe, Australia and 303 North Africa and Clade C including head lice was found in Nepal, Ethiopia and Senegal 304 (Boutellis et al., 2014). Analysis of mitochondrial gene of Pre-Columbian mummies lice 305 showed that Clades A and B were previously present on the Americas before the coming of 306 European settlers (Boutellis et al., 2013a;Raoult et al., 2008). This supports an American 307 origin for Clade B and a dispersal in the Old World with European colonists returning to 308 Europe (Boutellis et al., 2014). Recently, we described a fourth clade, Clade D comprising 309 head and body lice in Democratic Republic of the Congo (Figure 2). 310 Genome of Pediculus humanus 311 Until very recently (Kelley et al., 2014), Pediculus humanus had the smallest genome sizes 312 known in insects (ca. 108 Mb) at that time (Johnston et al., 2007) what made him an excellent 313 candidate for sequencing. In 2010, Kirkness et al. (Kirkness et al., 2010) published a first 314 version of the body louse genome, and its primary bacterial endosymbiont Candidatus Riesia 315 pediculicola. This genome contained 10,773 predicted protein-coding genes, 163 of which are 316 specific to it (Kirkness et al., 2010). It contains 58 microRNAs genes (Kirkness et al., 317 2010;Olds et al., 2012). Transposable elements represent only 1% of the genome and GC 318 percentage is very low, about 28%, which would explain the small size of this genome 319 (Kirkness et al., 2010). Thirty seven P450s were found in louse, far of the number of P450 320 found in other insects, an advantage to explore the insecticide resistance in human lice (Lee et 321 al., 2010;Yoon et al., 2011). P. humanus is equipped with a complete genetic repertoire 322 enable him to carry out its essential biological functions, but compared to Drosophila 13 37 323 melanogaster, some genes associated with sensing and responding to the environment are in 324 reduced number (Kirkness et al., 2010). 325 Mitochondrial genome 326 Unlike bilateral animals from which the 37 mitochondrial (mt) genes are arranged on a single 327 circular chromosome, the head and body lice have their mt genes on 20 minichromosomes 328 respectively. Each minichromosome has a size of three to four kilobases and contains one to 329 three genes in addition to a large non coding region that includes a control region (Shao et al., 330 2012). This organization would be due to the lack of the mitochondrial single-stranded 331 binding protein (mtSSB) involved in mitochondrial genome replication (Kirkness et al., 332 2010). 333 Genome of Candidatus Riesia pediculicola endosymbiont 334 The genome of Candidatus Riesa pediculicola comprises less than 600 genes distributed 335 between a linear chromosome and plasmid that includes specifically genes required for the 336 synthesis of pantothenate, an indispensable vitamin deficient in the louse diet (Kirkness et al., 337 2010). 338 Recently, the sequencing of the genome of the P. schaeffi endosymbiont namely Candidatus 339 Riesa pediculischaeffi and its comparison to the genome of Candidatus Riesia pediculicola 340 showed that the two species diverged roughly 5.4 Mya ago (Boyd et al., 2014). 341 Head and body louse transcriptome 342 The comparison of the body and head louse transcriptome revealed that the two ecotypes had 343 the same numbers of genes except one gene missing in the head louse (PHUM540560) (Olds 344 et al., 2012) . The refined analysis of partial sequence of this gene in both body and head lice 345 showed that the gene was also present in the head louse but with a rearranged sequence. 346 Based on the difference between the two sequences, a multiplex RT-PCR was developed to 347 differentiate between the two ecotypes (Drali et al., 2013). The tool developed was 14 38 348 particularly effective in field since it able to determine that lice populations collected on the 349 head and clothing of the same homeless in Marseille had a body louse genotype (Drali et al., 350 2014). 351 Vector competence of human lice 352 So far, body louse is the only known that can transmit at least three deleterious diseases that 353 have killed millions of people, namely epidemic typhus, trench fever and relapsing fever 354 caused by Rickettsia prowazekii, Bartonella quintana, and Borrelia recurrentis respectively 355 (Raoult and Roux, 1999). It is also suspected in the transmission of a fourth lethal pathogen, 356 Yersinia pestis, the agent of plague (Houhamdi et al., 2006;Piarroux et al., 2013). In recent 357 years, the DNA of B. quintana was found in head lice belonging to Clade A (Bonilla et al., 358 2009;Boutellis et al., 2012;Piarroux et al., 2013;Sangare et al., 2014) and Clade C (Angelakis 359 et al., 2011;Sasaki et al., 2006). DNA of B. recurrentis found in head lice Clade C (Boutellis 360 et al., 2013b) and DNA of Y. pestis was detected in head lice of Clade A and D (Figure 2). 361 Treatment 362 Before the advent of pediculicides, the louse control was mainly by physical means such 363 combing, louse and nit removal, shaving and laundering of clothing (Mumcuoglu and Zias, 364 1988). 365 In recent decades, different chemical molecules with various mechanism of action have been 366 developed for the treatment of pediculosis. Unfortunately lice developed a resistance against 367 most of these molecules namely organochloride (DDT and Lindane), synthetic pyrethroids 368 (Permethrin), organophosphate (Malathion), and Carbamate (Carbaryl), (Clark et al., 2013). 369 Macrocyclic lactone (Ivermectin) seems to be working for the treatment of head lice (Pariser 370 et al., 2013) although a potential resistance to this molecule has been demonstrated under 371 laboratory conditions (Yoon et al., 2011). 15 39 372 Today, the availability of louse genome opens new perspectives in understanding its biology 373 vector competence which will help to consider new ways to fight against lice infestation. 374 Genus Pedicinus 375 Genus Pedicinus includes 16 species that parasitize 41 species of Old World monkeys 376 distributed among Colobinae and Cercopithecinae (Durden, 2001;Price and Graham, 1997). 377 More than one species of Pedicinus can parasitize different hosts but the opposite is rare 378 (Durden and Musser, 1994a). However, erratic cases where two different species of Pedicinus 379 that parasite the same host species have been reported in Colobinae; in Africa where two non- 380 interbreeding populations of lice were found on both groups of red colobus (Scholl et al., 381 2012) and in Southeast-Asia on douc langurs (Pygathrix spp.) (Mey, 2010). In both cases, the 382 authors believe that this is due to host-switching that can occur during direct contact between 383 the respective hosts of both species of Pedicinus (Mey, 2010;Scholl et al., 2012). 384 Kuhn in 1967, cited by Price in 1997, reported cases of infestation of White-handed gibbon 385 (Hylobates lar) by Pedicinus eurygaster, the only case reported in literature (Kuhn and 386 Ludwig, 1967;Price and Graham, 1997). 387 Other sucking lice 388 The group of lemurs of Madagascar are hosting three genera of lice (Lemurpediculus, 389 Lemurphthirus and Phthirpediculus) all belonging to the family Polyplacidae (Durden and 390 Musser, 1994a). Comprising 190 species distributed in 20 genera, Polyplacidae is the largest 391 family of Anoplura (Durden and Musser, 1994b). Members of this family parasitize mainly 392 rodents and insectivores (Price and Graham, 1997). 393 Genus Pthirus 394 Pthirus pubis usually known as the crab or pubic louse is the third type of louse that 395 parasitizes humans (Durden and Musser, 1994a). Pt. pubis is prevalent worldwide and is 396 present in all categories of the population. It is sexually transmitted and has often been found 16 40 397 in combination with sexually transmitted infections (Anderson and Chaney, 2009). Crab louse 398 lives in pubic hair but he can be found also on the eyelashes and / or eyebrows of the children 399 (Chosidow, 2000). The second louse belonging to the family Pthiridae, Pthirus gorillae is the 400 parasite of gorillas (Durden and Musser, 1994a). Then, the legitimate question facing 401 scientists was: why humans and gorillas shared the same genus of lice? The molecular 402 analyzes of both species showed that P. pubis and P. gorillae were sister taxa that diverged 3 403 to 4 million years ago (Reed et al., 2007), more freshly than the gorilla/human-chimp split 404 which is estimated at about 9 million years ago (Wilkinson et al., 2011). The proposed 405 scenario assumes that the Pthirus lineage from archaic gorillas switched to the archaic human 406 who transmitted it to his descendants (Reed et al., 2007). 407 Chewing lice 408 Genus Trichophilopterus 409 This genus contains only one species namely Trichophilopterus babakotophilus for whom 410 Mjöberg (Nuttall, 1919a) established the monotypic family Trichophilopteridae that parasites 411 only the lemurs of Madagascar (Price and Graham, 1997). Trichophilopterus has been 412 classified for a time in the family Philopteridae (parasites of birds) by Ferris (1933), finally 413 taxonomists have found that it was quite different to constitute a family itself (Price and 414 Graham, 1997). 415 Genus Felicola 416 Genus Felicola is composed of 55 species of which 54 are parasites of carnivores. The fifty 417 fifth species is found in Lorisidae, the Asian-African family of primates (Lyal, 1985b;Perez 418 and Palma, 2001). 419 Genus Cebidicola 420 Belonging to the family of Trichodectidae, genus Cebidicola comprises three species found in 421 New World monkeys living in Brazil: C. amiatus found in Ring-tailed monkey (Alouatta 17 41 422 ursina) and Woolly spider monkey (Brachyteles arachnoïdes); C. extrarius found in Red 423 howler monkey; C. semiarmatus found in Rufous-handed howler monkey (Alouatta belzebul), 424 Black howler (Boero and Boerhinger, 1963), Brown howler (Alouatta guariba) and Ring- 425 tailed monkey (Price and Graham, 1997). 426 Genus Aotiella 427 Two species of Aotiella a parasite of South American night monkeys (Aotidae) have been 428 described: A. aotophilus hosted by (Aotus azarai) and A. hershkovitzi found in gray-necked 429 night monkey (Aotus trivirgatus) (Price and Timm, 1995). 430 Co evolution and Host-Switching 431 The partnership hosts - lice parasites old of 65 million years is marked by a succession of 432 events like cospeciation, coevolution, host-switching and adaptation (Barker, 1991;Barker, 433 1994;Hafner and Page, 1995;Smith et al., 2011). For lice, Host-switching is not accidental but 434 rather a vital necessity. This is also the case for blood sucking insects that can feed in 435 fortuitous host when its favorite host becomes scarce or is not accessible (Takken and 436 Verhulst, 2013). Physiological factors like famine and/or abundance of accessible new hosts 437 may favor to host-switching (Takken and Verhulst, 2013). 438 Host-switching phenomenon seems marked by strict rules. Indeed, according to Clayton, lice 439 cannot establish viable populations on novel hosts that differ in size from the native host 440 (Clayton et al., 2003). In real life, this rule does not always respected. Indeed, in 1940s, a 441 colony of human body lice (Orlando strain) was adapted to take blood meals on rabbits 442 (Culpepper, 1944). Cases of infestation with Pediculus and Pedicinus were reported in 443 gibbons we thought no parasitized by lice just like orangutans (Kuhn and Ludwig, 1967;Price 444 and Graham, 1997). New World monkeys have inherited human lice (Ewing, 1938). Indeed, 445 P. mjobergi has well adapted to its new host. It is even likely that recombination events can 446 take place between the two populations of lice on the occasion of their meeting (Drali, 18 42 447 unpublished data). Humans and gorillas share the louse of genus Pthirus as a result of host- 448 switching from archaic gorillas to archaic hominids roughly 3 Mya throughout direct contact 449 between them (Reed et al., 2007). 450 Concluding remarks 451 The study of lice is essential for understanding complex processes such as coevolution, 452 cospeciation, adaptation and host-switching. Through carrying out this literature review, we 453 realized that little is known about lice parasitizing primates, apart from the human louse of the 454 genus Pediculus. Thus, some primates can harbor lice belonging to different sub-orders. This 455 is the case of Lemuridae, Indridae and Cebidae (Table 1). 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The lice of primates Ischnocera Trichodectidae Lemuridae Indri and Propithecus Lemur and Eulemur Primate Genus Indridae Nycticebus Primate Family Lorisidae Alouatta and Brachyteles Genus Felicola Cebidae Trichophilopterus Cebidicola Lemuridae Cheirogaleidae Lepilemur Eulemur Cheirogaleus and Microcebus Aotus Megaladapidae Avahi and Propithecus Aotiella Indridae Galago, Galagoides and Otolemur Gyropidae Galagonidae Pan and Homo Amblycera Phthirpediculus Hominidae Alouatta, Cebus, Cacajao, Pithecia and Ateles Lemurpediculus Lemurphthirus Cebidae Hylobates Polyplacidae Pediculus Hylobatidae Gorilla and Homo Presbytis, Procolobus, Trachypithecus and Semnopithecus Lophocebus, Chlorocebus, Miopithecus, Colobus, Nasalis, Cercocebus, Cercopithecus, Erythrocebus, Macaca, Papio, Pedicinus Pthirus Hominidae Cercopithecidae Anoplura Pediculidae Pedicinidae Pthiridae 55 Figure 1. Maximum-likelihood (ML) phylogram of cox1 mt gene in primates. The symbols represent the different genera of lice that parasitize different primate families. 56 Figure 2. Maximum-likelihood (ML) phylogram of cytb mt gene. ML bootstrap that support values greater than 75 are located above the nodes. Mitochondrial clade memberships are indicated to the right of each tree. GenBank accession numbers, manuscript lead author, locality are indicated for each louse specimen. Localities are abbreviated as follows: California (CA), Florida (FL), Georgia (GA), Maryland (MD), Massachusetts (MA), Papua New Guinea (PNG), Republic Democratic of the Congo (RDC), United Kingdom (UK), and Utah (UT). 57 Chapitre 1 : Différenciation pou de tête - pou de corps 59 Préambule Le pou de tête et le pou de corps appartiennent-ils à la même espèce? Une question restée en débat pendant plus de deux siècles. En effet, une fois détachés de leurs niches écologiques respectives, ils ne sont plus différenciables [42]. La comparaison de différents critères morphologiques chez les deux types de poux tels la forme, la taille ou encore la pigmentation n’a pas réussi à les séparer [43]. Certains auteurs soutiennent que les différences morphologiques observées entre les deux écotypes seraient dues à une adaptation à leur environnement. À juste titre, des poux de tête élevés sous les conditions habituelles des poux de corps deviennent progressivement indiscernables de ces derniers [44,45]. C’est finalement le séquençage du génome du pou de corps [28] qui a permis de faire une percée dans le traitement de la question. En effet, dans une étude visant à comparer le profil transcriptionnel du pou de tête et du pou de corps, Olds et al. avaient soutenu que seul le gène phum_PHUM540560 séparait les deux types de poux. Pour les auteurs, ce gène était présent et transcrit chez le pou de corps, mais absent chez le pou de tête [29]. 61 Dans la foulée, nous avons ciblé et réussi à amplifier une séquence partielle de 187 pb de ce gène aussi bien chez des poux de tête que des poux de corps appartenant au Clade A provenant de 13 pays, 5 continents. L’alignement des séquences obtenues a révélé l’existence de plusieurs polymorphismes entre les séquences des deux types de poux. Nous nous sommes appuyés sur ces différences pour mettre en place un outil moléculaire basé sur de la RT PCR multiplexe capable de différencier rapidement entre le pou de tête et le pou de corps [42]. Cet outil s’est révélé particulièrement utile sur le terrain pour connaître le statut génotypique des poux infectés par B. quintana [16,46]. 62 Article I: Distinguishing Body Lice from Head Lice by Multiplex Real-Time PCR Analysis of the Phum_PHUM540560 Gene PLoS One 8: e58088 63 Distinguishing Body Lice from Head Lice by Multiplex Real-Time PCR Analysis of the Phum_PHUM540560 Gene Rezak Drali1,2, Amina Boutellis1, Didier Raoult1, Jean Marc Rolain1, Philippe Brouqui1* 1 Aix Marseille Université, URMITE, UM63, CNRS 7278, IRD 198, Inserm 1095, Marseille, France, 2 Service des Entérobactéries et Hygiène de l’Environnement, Institut Pasteur d’Algérie, Algiers, Algeria Abstract Background: Body louse or head louse? Once removed from their environment, body and head lice are indistinguishable. Neither the morphological criteria used since the mid-18th century nor the various genetic studies conducted since the advent of molecular biology tools have allowed body lice and head lice to be differentiated. In this work, using a portion of the Phum_PHUM540560 gene from the body louse, we aimed to develop a multiplex real-time polymerase chain reaction (PCR) assay to differentiate between body and head lice in a single reaction. Materials and Methods: A total of 142 human lice were collected from mono-infested hosts from 13 countries on five continents. We first identified the louse clade using a cytochrome b (CYTB) PCR sequence alignment. We then aligned a fragment of the Phum_PHUM540560 gene amplified from head and body lice to design-specific TaqMan� FAM- and VIClabeled probes. Results: All the analyzed lice were Clade A lice. A total of 22 polymorphisms between the body and head lice were characterized. The multiplex real-time PCR analysis enabled the body and head lice to be distinguished in two hours. This method is simple, with 100% specificity and sensitivity. Conclusions: We confirmed that the Phum_PHUM540560 gene is a useful genetic marker for the study of lice. Citation: Drali R, Boutellis A, Raoult D, Rolain JM, Brouqui P (2013) Distinguishing Body Lice from Head Lice by Multiplex Real-Time PCR Analysis of the Phum_PHUM540560 Gene. PLoS ONE 8(2): e58088. doi:10.1371/journal.pone.0058088 Editor: Ramy K. Aziz, Cairo University, Egypt Received August 29, 2012; Accepted January 30, 2013; Published February 28, 2013 Copyright: � 2013 Drali et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: The authors have no support or funding to report. Competing Interests: The authors have declared that no competing interests exist. * E-mail: philippe.brouqui@univmed.fr Introduction 18S ribosomal RNA has enabled the sub-Saharan African phylogenetic group of lice to be distinguished from a second group that encompasses the remainder of the lice worldwide [8,9]. An analyses of the mitochondrial cytochrome b (CYTB) and cytochrome oxidase I (COI) genes, have allowed the differentiation of three clades of lice. Clade A contains both body and head lice that are distributed worldwide. Clade B contains head lice encountered in America, Europe and Australia, whereas Clade C contains head lice found in Ethiopia, Nepal and Senegal [10–14]. Recently, a method targeting intergenic spacers that utilizes four highly polymorphic markers has revealed associations between the sources and genotypic distributions of lice [15,16]. Nevertheless, none of the above genetic studies were able to differentiate between body and head lice. In 2010, the sequencing of the entire genome of P. humanus corporis provided new perspectives for understanding the relationship between the biology and genetics of the louse [17]. More recently, a study comparing the transcriptional profiles of body and head lice reported that the two types of lice had a single, 752-base pair (bp) difference in the Phum_PHUM540560 gene, which encodes a hypothetical, 69-amino acids protein of unknown function [18]. Based on the alignment of a portion of the two Phum_PHUM540560 gene sequences, we have designed a novel multiplex real-time PCR assay to efficiently differentiate, for the first time, between body and head lice Body and head lice are hematophagous ectoparasites that are specific to humans [1] and have different ecologies. The body louse, Pediculus humanus corporis, lives and multiplies in clothing, whereas the head louse, Pediculus humanus capitis, lives and lays its eggs on hair [2,3]. The body louse is known as a vector of three life-threatening infectious diseases: epidemic typhus, caused by Rickettsia prowazekii; relapsing fever, caused by Borrelia recurrentis; and trench fever, caused by Bartonella quintana [4,5]. Distinguishing body from head lice has always been a challenge. Once a louse leaves its biotope (head or clothes), it becomes indistinguishable from other lice, which has presented a critical problem in historical and paleobiological studies of lice. Since the mid-18th century, morphological criteria such as size, shape and color gradation have been used to differentiate body and head lice into two distinct species [6]. In 1978, the use of microscopes to observe body and head lice collected from Ethiopians with double infestations allowed a researcher to conclude that the lice represented two distinct species, Pediculus humanus Linnaeus and Pediculus capitis De Geer. He based his assertion on the length of the tibia of the louse’s middle leg [7]. The advent of molecular biology and gene sequencing has led to the development of genetic studies to address issues concerning louse phylogeny. The investigation of the gene that encodes the PLOS ONE | www.plosone.org 1 65 February 2013 | Volume 8 | Issue 2 | e58088 Differentiating Body from Head Louse collected from a mono-infested host. This assay has been tested by analyzing a large collection of worldwide specimens belonging to Clade A, the only clade known to contain both body and head lice. Research, Waltham, MA, USA). The final reaction volume was 20 ml, with 0.4 U of Phusion polymerase (Finnzymes, Thermo Scientific, Vantaa, Finland), 4 ml of 5x Phusion buffer, 0.5 mM of each primer, 0.16 mM dNTP mix and 30–50 ng of genomic DNA. The following cycling conditions were used for the amplifications: an initial 30-s denaturation at 98uC; 35 cycles of denaturation for 5 s at 98uC and annealing for 30 s at 56uC (for CYTB gene) or 59uC (for the Phum_PHUM540560 gene); and a final 15 min extension at 72uC. The amplification was completed by a 5-min extension at 72uC. Subsequently, the PCR products were subjected to electrophoresis on 1.5% agarose gels with ethidium bromide staining and were then purified using NucleoFast 96 PCR Plates (Macherey-Nagel EURL, Hoerdt, France) according to the manufacturer’s instructions. Bidirectional DNA sequencing of the targeted PCR products was performed using the 3130XL genetic analyzer (Applied Biosystems, Courtaboeuf, France) with the BigDye Terminator v1.1 cycle (Applied Biosystems). The electropherograms obtained for each sequence were analyzed using Chromas Pro software (Technelysium PTY, Australia). Materials and Methods Ethics statement Lice from foreign countries were obtained from the private frozen collection of our laboratory (The URMITE/WHO Collaborative Research Center). The lice in that collection were required for various epidemiological and entomological studies or to perform diagnoses abroad and were sent to our laboratory as a WHO reference facility. The specimens were collected according to the ethics laws of each country; however, because lice are not part of the human body, lice removed from individuals are not considered to be human samples in most countries. The body lice were collected from clothing, and the head lice were removed from hair, with the verbal consent of the infested individuals. Written consent was not obtainable in the majority of cases because most of the subjects were illiterate. However, in most instances, the investigator, local authorities and/or village chief approved and were present when it was performed. The lice collected in France were obtained from homeless individuals during a registered epidemiological study (French Bioethics laws nu 2011–814). Informed consent was obtained from these subjects, and the study was approved by the ‘‘Comité de Protection des Personnes Sud Mediterranée I’’ on January, 12, 2011 (ID RCB: 2010-A01406-33). The anonymity of the individuals who provided the lice used in the present genetic analysis was preserved. Phylogenetic analysis The DNA sequences were aligned using the multi-sequence alignment software CLUSTAL X, version 2.0.11. The partial CYTB gene sequences were aligned with sequences available from GenBank. The percentages of similarity were determined using the MEGA 5 software package (Molecular Evolution Genetic Analysis, The Biodesign Institute, AZ, USA) [20]. The PhyML phylogeny software was used to create an unrooted phylogenetic tree based on the DNA sequences using maximum likelihood (ML) 100 bootstrap replicates [21]. Sampling A total of 142 lice, including 88 body lice and 54 head lice, were collected from mono-infested human hosts. The head lice were collected exclusively from the hair, and the body lice were collected exclusively from clothing. No lice were collected from the neck or the beard; the purpose of this precaution was the avoidance hybrid lice, as previously reported [7]. The strain information, geographic origin and anatomical sources (body or head) of the analyzed lice are provided in Table 1. Real-time PCR and PCR products sequencing TaqMan� FAM- and VIC-labeled probes (Table 2) specific to body and head lice, respectively, were designed for the sequences obtained in this study. Both probes contained a TAMRA quencher dye at the 39 end. The probes were synthesized by Applied Biosystems (Courtaboeuf, France). Monoplex and multiplex real-time PCRs were performed in the CFX96 thermal cycler (Bio-Rad Laboratories, Foster City, CA, USA). The final reaction volume of 20 ml contained 5–20 ng of the DNA template, 10 ml of 2x QuantiTect Probe PCR Master Mix (Qiagen), 0.5 mM of each primer and 0.2 mM of the FAM- or VIC-labeled probes. A monoplex protocol designed to optimize the conditions for the multiplex real-time PCR was used: a denaturation step at 95uC for 15 min; and 40 cycles of 95uC for 15 s and 60uC for 45 s. The multiplex real-time PCR was performed using the optimized conditions that were determined in the monoplex real-time PCR assay. Each reaction contained 10 ml of 2x QuantiTect Probe PCR Master Mix (Qiagen), 0.5 mM of each primer, 0.2 mM of each fluorogenic probe, 5–20 ng of the DNA template, adjusted to a final volume of 20 ml with the addition of nuclease-free dH2O. The cycling parameters consisted of 95uC for 15 min and 40 cycles of 95uC for 15 s and 60uC for 1 min. To evaluate the specificity (the ability of the test to identify negative results) and sensitivity (the ability of the test to identify positive results) of the developed method, all the products of the multiplex real-time PCR amplifications were sequenced, and these sequences were used as the gold standard reference. DNA preparation Prior to DNA isolation, each louse was immersed in 70% ethanol for 15 min and was then rinsed twice in sterile water. Total genomic DNA was extracted using the QIAamp Tissue Kit (QIAGEN, Hilden, Germany) according to the manufacturer’s instructions. The extracted DNA was assessed for quantity and quality using a NanoDrop instrument (Thermo Scientific, Wilmington, United Kingdom) before being stored at 220uC [19]. Conventional PCR and sequencing Two conventional PCR experiments were performed in this study. The first was performed to identify the Clades of the collected lice by amplifying and sequencing a 347-bp fragment of the mitochondrial cytochrome b (CYTB) gene [7]. The second PCR targeted a 187-bp fragment of the Phum_ PHUM540560 gene using a pair of primers designed in this study and based on the Phum_PHUM540560 gene sequence available from GenBank (Pediculus humanus corporis strain USDA 1103172108290, GenBank accession no. NW_002987859.1 GI: 242022583). The obtained PCR products from three body lice and three head lice were sequenced to enable comparison of the body and head lice DNA sequences. All the PCRs were performed using the primers outlined in Table 2 and a PTC-200 automated thermal cycler (MJ PLOS ONE | www.plosone.org Results The concentration of the genomic DNA extracted from the 142 lice analyzed in this study ranged from 5 to 20 ng/ml. 2 66 February 2013 | Volume 8 | Issue 2 | e58088 Differentiating Body from Head Louse Table 1. The Clade A lice examined in this study and the results of the real-time PCR assay. Country Town/province Analysis channel results Number FAM-positive VIC-positive 0 Body lice France Marseille 15 15 Hungary Budapest 10 10 0 Nepal Pokava 9 9 0 China Inner Mongolia Province 5 5 0 Tiligi 7 7 0 Japan Tokyo 10 10 0 Madagascar Borenty village 9 9 0 Kenya Nairobi 10 10 0 USA Orlando 13 13 0 Head lice USA Washington 6 0 6 Brazil Sao Cristovao 6 0 6 Amazonia 8 0 8 Madagascar Bedaro village 12 0 12 Senegal Dakar 3 0 3 Australia Brisbane 5 0 5 Papua New Guinea Highlands 5 0 5 New Zeland Auckland 9 0 9 doi:10.1371/journal.pone.0058088.t001 Genotypic distribution of the lice based on the mitochondrial CYTB gene acid and the I19N (ATT.AAT) mutation that would replace isoleucine with asparagine. The remainder of the polymorphisms were spread throughout the first intron and included the insertion of nucleotides at two different locations: approximately nucleotide (nt) 96+11 ins.G and nt 96+80, (ins.CT). This triplex insertion resulted in the amplification of a 190-bp fragment from the head lice and a 187-bp fragment from the body lice (Figure 1). A 347-bp DNA fragment was successfully amplified from the CYTB gene in all 142 lice. Direct sequencing and multiple alignments of the obtained sequences revealed that all the lice belonged to Clade A (data not shown). Characterization of the partial Phum_PHUM540560 gene in body and head lice Real-time PCR and PCR product sequencing The multiple alignments of the partial Phum_PHUM54056 gene sequences obtained from the six analyzed lice revealed 22 polymorphisms between body and head lice (Figure 1). The first exon contained two point mutations: a silent (CCA.CCC) transversion affecting codon 18 that would not change the amino The monoplex real-time PCR results demonstrated that the FAM-labeled probe was specific to the body lice and that the VIClabeled probe was specific to the head lice. This assay was optimized by testing louse specimens from known anatomical locations. Table 2. The oligonucleotide primers and probes used in this study. Name Purpose Sequence 59R39 Cytb_F Forward sequencing primer partial cytochrome b gene GAGCGACTGTAATTACTAATC Cytb_R Reverse sequencing primer partial cytochrome b gene GGACCCGGATAATTTTGTTG Phum540560_F Forward sequencing primer partial Phum_PHUM540560 gene GTCACGTTCGACAAATGTT Phum540560_R Reverse sequencing primer partial Phum_PHUM540560 gene TTTCTATAACCACGACACGATAAAT BL probe Specific to the body lice FAM-CGATCACTCGAGTGAATTGCCA-TAMRA HL probe Specific to the head lice VIC-CTCTTGAATCGACGACCATTCGCT-TAMRA doi:10.1371/journal.pone.0058088.t002 PLOS ONE | www.plosone.org 3 67 February 2013 | Volume 8 | Issue 2 | e58088 Differentiating Body from Head Louse Figure 1. Primer and probe alignments with partial Phum_PHUM540560 gene sequences from body and head lice [35]. A portion of the Phum_PHUM540560 gene sequences from body and head lice were aligned with the primers and probes designed for the multiplex RT-PCR assay. Part of the first exon spanings nucleotides 1 to 64 was analyzed. The forward and reverse primer sequences are boxed in black. The FAM- and VIC-labeled probe sequences are boxed in purple and green, respectively. The nucleotides in blue represent single-nucleotide polymorphisms that are specific to head lice. The nucleotides in black represent single-nucleotide polymorphisms that are specific to body lice. BL: body louse; HL: head louse; NW_002987859.1: Pediculus humanus corporis strain USDA 1103172108290 Phum_PHUM540560 (gene sequence available in GenBank). doi:10.1371/journal.pone.0058088.g001 The multiplex real-time PCR assay clearly identified and simultaneously differentiated among the 142 lice included in this work. Specifically, the signal emitted by the FAM-labeled probe was detected only in the body louse samples, whereas the signal emitted by the VIC-labeled probe was detected only in the head louse samples (Figure 2). No signals were detected in the nontemplate controls (NTCs). The Ct values obtained in this assay are outlined in Table S1. The sequencing of the 142 PCR products has confirmed our results. In addition, 100% of the samples that were positive for the FAM-labeled probe contained sequences specific to body lice, and 100% of the samples that were positive for the VIC-labeled probe contained sequences specific to head lice (100% sensitivity and 100% specificity; data not shown). Discussion Presently, comparisons of the body and head lice genomes are not possible because the head louse genome is not yet available. Recently published comparative transcriptional profiles of both body and head lice demonstrated that among the nine genes with differential expression, only one gene was absent in the head louse but present in the body louse [18]. We considered this difference to be a possible opportunity for distinguishing body lice from head Figure 2. Amplification curves from multiplex real-time PCR assays. Figure 1A. Real-time PCR amplification curves for body lice using a partial Phum_PHUM540560 gene in the FAM channel (495–520). Figure 1B. Amplification curves for head licee louse using a partial Phum_PHUM540560 gene in the VIC channel (522–544). doi:10.1371/journal.pone.0058088.g002 PLOS ONE | www.plosone.org 4 68 February 2013 | Volume 8 | Issue 2 | e58088 Differentiating Body from Head Louse lice. Unexpectedly, our first PCR amplification of the 187- bp fragment of the Phum_PHUM540560 gene produced a PCR product from both head and body louse samples, suggesting that at least a portion of the gene was present in both types of lice. The sequencing of the PCR products revealed significant differences between the sequences from the head and body lice, which may explain why the head louse sequence failed to amplify in Old’s experiment [18]. In this study, we exploited this sequence variation in the partial Phum_PHUM540560 gene to discriminate between body and head lice from a global collection of lice collected from monoinfested hosts originating from five different continents. Lice from Clade A were used because Clade A is the only currently recognized clade that includes both head and body lice [10,13,14], the two types of lice that our assay was developed to distinguish. Finally, our choice of specimens was based on the commonly recognized definitions of body and head lice. Under these conditions, we developed a multiplex real-time PCR assay that is rapid (two hours) and simple and has 100% specificity and sensitivity. The purpose of this study was to distinguish between body and head lice, a long-standing challenge. Resolving this challenge has become even more important because both head and body lice have been reported to harbor Bartonella quintana, the trench fever agent, raising the question of whether head lice, similar to body lice, can transmit the agent [22,23]. Currently, B. quintana DNA has been detected only in head lice collected from impoverished people in situations where co-infestations with body lice are possible [24–27]. In fact, co-infestations have been recently reported in the same homeless population [28]. One study of head lice collected from schoolchildren in France failed to detect B. quintana [29]. The ability to distinguish body lice from head lice will help advance our understanding of the role of head louse in the transmission of B. quintana. Moreover, 22% of the homeless people who frequent shelters in Marseille, France are infested with lice, and some people can harbor more than 10,000 lice in their clothing. In such a situation, finding lice on the head challenges the ‘‘head louse definition’’, making an identification tool useful. Recent studies have suggested that head and body lice can be mixed in people infested with both types of lice [28]. Although head and body lice do not interbreed in the wild [7], fertile hybrids with an intermediate morphology [30] have been reported under laboratory conditions [31,32]. Moreover, several observational studies have also suggested that head lice may become body lice when raised under the appropriate conditions [33,34]. Our technique can be used to identify heterozygous specimens, which may prove valuable for studies on the population dynamics of lice. This work confirmed that the Phum_PHUM540560 gene may be a useful genetic marker for the study of lice. However, the genetic differences between head and body lice do not put back into question whether head and body lice are conspecific [11]. The ability to distinguish between head and body lice may facilitate future research into the behavior of Clade A body and head lice. Supporting Information Table S1 Ct values obtained in multiplex real-time PCR for differentiating between body and head louse. (DOCX) Acknowledgments The text was edited by American Journal Experts under Certificate Verification Key: 6B5B-1E56-39B6-59E4-BE7F. We thank Idir BITAM, Institut Pasteur d’Algérie, Algiers, Algeria; and Christophe ROGIER, Institut Pasteur de Madagascar, Antananarivo. Author Contributions Conceived and designed the experiments: PB DR JMR. Performed the experiments: RD AB. Analyzed the data: RD AB DR JMR PB. Wrote the paper: RD PB. References 14. Reed DL, Smith VS, Hammond SL, Rogers AR, Clayton DH (2004) Genetic analysis of lice supports direct contact between modern and archaic humans. PLoS Biol 2: e340. 10.1371/journal.pbio.0020340 [doi]. 15. Li W, Ortiz G, Fournier PE, Gimenez G, Reed DL, et al. 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Angelakis E, Diatta G, Abdissa A, Trape JF, Mediannikov O, et al. (2011) Altitude-dependent Bartonella quintana genotype C in head lice, Ethiopia. Emerg Infect Dis 17: 2357–2359. 10.3201/eid1712.110453 [doi]. 28. Veracx A, Rivet R, McCoy KD, Brouqui P, Raoult D (2012) Evidence that head and body lice on homeless persons have the same genotype. PLoS One 7: e45903. 10.1371/journal.pone.0045903 [doi];PONE-D-12-20556 [pii]. PLOS ONE | www.plosone.org 29. Bouvresse S, Socolovshi C, Berdjane Z, Durand R, Izri A, et al. (2011) No evidence of Bartonella quintana but detection of Acinetobacter baumannii in head lice from elementary schoolchildren in Paris. Comp Immunol Microbiol Infect Dis 34: 475–477. S0147-9571(11)00076-2 [pii];10.1016/j.cimid.2011.08.007 [doi]. 30. Busvine JR (1948) The head and body races of Pediculus humanus L. Parasitology 39: 1–16. 31. Bacot AW (1917) A contribution to the bionomics of Pediculus humanus (vestimenti) and Pediculus capitis. Parasitology 9: 228–258. 32. Mullen G, Durden LA (2009) Medical and Veterinary Entomology. Academic Press, San Francisco. 33. Alpatov V, Nastukova OA (1955) Transformation of the head form of Pediculus humanus into the body form under changed conditions of existence. Bull Moscow Nat Hist Res Soc 60: 92. 34. Nuttall G (1919) The biology of Pediculus humanus. Supplementary notes. Parasitology 11: 201–221. 35. Corpet F (1988) Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res 16: 10881–10890. 6 70 February 2013 | Volume 8 | Issue 2 | e58088 Table S1. Ct values obtained in multiplex real-time PCR for differentiating between body and head louse Louse Body louse_1003/4 Body louse_1160/1 Body louse_1200/2 Body louse_1229/6 Body louse_1237/9 Body louse_1237/10 Body louse_1237/11 Body louse_1237/16 Body louse_1237/17 Body louse_1237/19 Body louse_1240/1 Body louse_1245/4 Body louse_1246/1 Body louse_2002/2 Body louse_2215 Body louse_104 Body louse_105 Body louse_106 Body louse_107 Body louse_108 Body louse_109 Body louse_110 Body louse_111 Body louse_112 Body louse_113 Body louse_80 Body louse_82 Body louse_83 Body louse_83 Body louse_86 Body louse_87 Body louse_88 Body louse_89 Body louse_90 Body louse_91 Body louse_92 Body louse_93 Body louse_94 Body louse_95 Body louse_96 Body louse_97 Body louse_98 Ct values FAM VIC 21,56 NA 20,84 NA 20,02 NA 18,33 NA 19,04 NA 20,19 NA 20,11 NA 20,24 NA 20,09 NA 20,51 NA 20,87 NA 20,72 NA 18,74 NA 19,04 NA 20,10 NA 22,02 NA 25,10 NA 26,51 NA 23,90 NA 24,17 NA 22,10 NA 27,59 NA 22,74 NA 23,19 NA 25,00 NA 23,08 NA 21,58 NA 23,50 NA 30,84 NA 31,98 NA 20,68 NA 22,17 NA 26,41 NA 20,49 NA 22,43 NA 21,94 NA 22,84 NA 21,74 NA 21,28 NA 20,08 NA 20,89 NA 21,43 NA 71 Country Town/Province France Marseille Hungary Budapest Inner Mongolia Province China Tiligi Japan Tokyo Body louse_99 Body louse_100 Body louse_101 Body louse_102 Body louse_103 Body louse_70 Body louse_71 Body louse_72 Body louse_73 Body louse_74 Body louse_75 Body louse_76 Body louse_78 Body louse_79 Body louse_223 Body louse_224 Body louse_226 Body louse_227 Body louse_228 Body louse_229 Body louse_230 Body louse_231 Body louse_232 Body louse_233 Body louse_175 Body louse_176 Body louse_177 Body louse_178 Body louse_179 Body louse_180 Body louse_181 Body louse_182 Body louse_183 Body louse_PDL1 Body louse_PDL3 Body louse_PDL4 Body louse_PDL6 Body louse_PDL11 Body louse_PDL13 Body louse_PDL14 Body louse_PDL7 Body louse_PDL2 Body louse_PDL9 Body louse_PDL10 Body louse_PDL4 Body louse_PDL5 Head louse_13 23,07 21,86 22,04 22,07 22,42 21,66 21,71 23,48 23,08 22,29 23,22 26,08 24,11 23,88 30,34 35,20 33,64 30,26 36,03 30,68 31,23 30,21 32,72 35,21 20,46 21,04 20,10 20,12 22,11 21,87 23,76 23,45 23,02 19,28 18,88 18,66 18,62 18,90 18,57 19,13 18,92 18,30 17,53 19,01 21,18 21,03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 31,52 72 Nepal Pokava Kenya Nairobi Madagascar Borenty village USA Laboratory colony USA Washington Head louse_14 Head louse_15 Head louse_16 Head louse_17 Head louse_19 Head louse_9 Head louse_10 Head louse_11 Head louse_12 Head louse_14 Head louse_172 Head louse_173 Head louse_175 Head louse_20 Head louse_21 Head louse_23 Head louse_24 Head louse_25 Head louse_29 Head louse_30 Head louse_31 Head louse_34 Head louse_36 Head louse_37 Head louse_50 Head louse_51 Head louse_54 Head louse_55 Head louse_56 Head louse_60 Head louse_61 Head louse_62 Head louse_63 Head louse_64 Head louse_66 Head louse_67 Head louse_68 Head louse_69 Head louse_160 Head louse_161 Head louse_162 Head louse_163 Head louse_165 Head louse_166 Head louse_168 Head louse_170 Head louse_171 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 32,36 32,04 35,44 37,34 36,01 34,43 35,87 33,92 39,17 35,69 37,51 36,56 37,32 35,47 37,84 35,22 39,33 38,18 23,20 36,56 35,45 38,16 37,01 37,88 36,43 36,33 36,26 36,21 37,64 35,71 35,94 37,74 36,43 38,07 37,20 36,89 37,45 37,16 24,45 24,79 24,54 36,13 24,09 28,02 26,78 26,23 36,16 73 Amazonia Brazil Sao Cristovao Australia Brisbane Papua New Guinea Highlands New Zeeland Auckland Madagascar Bedaro village Head louse_172 Head louse_173 Head louse_174 Head louse_48 Head louse_95 Head louse_96 NTC NA NA NA NA NA NA NA 28,20 29,55 27,44 27,54 28,17 24,03 NA NA: signal not detected; NTC: non template control 74 Senegal Dakar Article II: Bartonella quintana in Body Lice from Scalp Hair of Homeless Persons, France Emerging Infectious Diseases 20: 907-908. 75 LETTERS Address for correspondence: Pietro E. Varaldo, Unità di Microbiologia, Dipartimento di Scienze Biomediche e Sanità Pubblica, Università Politecnica delle Marche, Via Tronto 10/A, 60126 Ancona, Italy; email: pe.varaldo@ univpm.it Bartonella quintana in Body Lice from Scalp Hair of Homeless Persons, France To the Editor: Bartonella quintana is a body louse–borne human pathogen that can cause trench fever, bacillary angiomatosis, endocarditis, chronic bacteremia, and chronic lymphadenopathy (1). Recently, B. quintana DNA was detected in lice collected from the heads of poor and homeless persons from the United States, Nepal, Senegal, Ethiopia, and the Democratic Republic of the Congo and in nits in France (2,3). The head louse, Pediculus humanus capitis, and the body louse, Pediculus humanus humanus, are obligatory ectoparasites that feed exclusively on human blood (4). Outside of their habitats, the 2 ecotypes are morphologically indistinguishable (1). Sequence variation in the PHUM540560 gene discriminates between head and body lice by determining the genotype of the lice (5). While surveying for trench fever among homeless persons in shelters in Marseille, France during October 2012–March 2013, we investigated the presence of B. quintana DNA in nits, larvae, and adult lice collected from mono-infested and dually infested persons and determined the genotypes of the specimens. The persons included in this study received long-lasting insecticide-treated underwear; lice were collected by removing them from clothing, including underwear, pants, and shirts. Because body lice reside in the clothing of infested persons except when feeding, they are sometimes called clothing lice. A total of 989 specimens were tested, including 149 (83 from clothing and 66 from hair) first–instar larvae hatched in the laboratory from eggs collected from 7 dually infested persons, and 840 adult body lice collected from the clothing of 80 monoinfested patients. We included DNA isolated from 3 nits collected from the hair of a mono-infested person who had previously been confirmed as positive for B. quintana 6) (Table). Total DNA was extracted by using an EZ1 automated extractor (QIAGEN, Courtaboeuf, France) and subjected twice to real-time PCR specific for B. quintana. The first PCR targeted the 16S-23S intergenic spacer region. Positive samples were confirmed by using a second real-time PCR targeting the yopP gene (6). Samples that tested positive for B. quintana DNA were analyzed by multiplex real-time PCR that targeted the PHUM540560 gene (5). We used head and body lice that had known genotypes positive controls. Negative controls were included in each assay. Of the hatched larvae, 5 (6%) of the 83 recovered from clothing and 7 (11%) of 66 from the hair (Table) of 4 of the 7 dually infested persons were positive for B. quintana DNA (online Technical Appendix Table 1 wwwnc.cdc.gov/EID/article/20/5/131242-Techapp1.pdf). Of the 840 adult body lice, 174 (21%) collected from 42 (53%) of 80 of the mono-infested persons contained B. quintana DNA (Table, online Technical Appendix 2). The multiplex real-time PCR that targeted the PHUM540560 gene clearly identified all nits, larvae, and adult lice as belonging to the body lice lineage. Negative controls remained negative in all PCR-based experiments. For 2 decades, B. quintana DNA has been regularly detected in lice collected from the heads of persons living in poverty, but it had not been detected in head lice that infest schoolchildren (7,8). All of the lice collected during this study that tested positive for B. quintana from homeless persons were body lice, including some that were recovered from hair. This observation supports our assertion that body lice are not confined to the body. The 3 eggs that were removed from the hair of a mono-infested homeless person whose samples tested positive for B. quintana were also body lice. During the clinical examination, no adult head lice or adult body lice were found on that person, confirming that the patient had been heavily infested with body lice in the past, not head lice. The nits were most likely laid by body lice that migrated toward the patient’s head. When a member of Table.DistributionofBartonella quintana DNAinnits,larvae,andadultbodylicecollectedfromhairandclothingofhomelesspersons inshelters,Marseille,France,October2012–March2013* No.persons No.(%)licepositivefor B. quintana DNA Reference Location Duallyinfested,n=7 Monoinfested,n=80 Hair Nits 0 3 3(100) (6) Thisstudy Hatchedlarvae 66 0 7(10.60) Clothing Hatchedlarvae 83 0 5(6.00) Thisstudy Adults 0 840 174(20.70) Thisstudy *Alllicewereidentifiedasbodylice.Studyparticipantswereprovidedwithlong-lastinginsecticide-treatedunderwear,andkilledbodylicewerecollected fromtheclothingofinfestedpersons. 77 EmergingInfectiousDiseases•www.cdc.gov/eid•Vol.20,No.5,May2014 907 LETTERS this research team (DR) collected the eggs from the hair shaft, they were found ≈3 3.5 cm from the hair follicle. Because hair grows ≈1.25 cm per month, the louse infestation occurred ≈3 months before egg collection (6). Homeless persons that we have monitored for many years are often heavily infested by body lice but are also occasionally infested with head lice. Before genetic tools that differentiate the head and body louse lineages were available (5), it was speculated that body lice may have originated from head lice (9). From our study, it is clear that under conditions of massive infestation, body lice can migrate and colonize hair; the opposite may also be true. However, there is no evidence that body lice are capable of causing an outbreak of lice living on the head, as happens among schoolchildren that have been found to be infested only by head lice. This suggests that body lice cannot thrive in the environment of head lice, which infest millions of children worldwide (10), further suggesting that outbreaks of trench fever are most likely not linked to head lice in industrialized countries. In conclusion, by analyzing lice harvested from the heads and clothing of homeless persons, we have shown that the 2 ecotypes belong to the same body lice population. The text has been edited by American Journal Experts under certificate verification key 51F8-8A17-1F51-90DD-705C. Rezak Drali, Abdoul Karim Sangaré, Amina Boutellis, Emmanouil Angelakis, Aurélie Veracx, Cristina Socolovschi, Philippe Brouqui, and Didier Raoult Authoraffiliations:AixMarseilleUniversité, Marseille, France; and Institut HospitaloUniversitaire Méditerranée Infection, 13005,Marseille DOI:http://dx.doi.org/10.3201/eid2005.131242 908 References 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. Brouqui P. Arthropod-borne diseases associated with political and social disorder. Annu Rev Entomol. 2011;56:357–74. http://dx.doi.org/10.1146/annurev-ento120709-144739 Boutellis A, Mediannikov O, Bilcha KD, Ali J, Campelo D, Barker SC, et al. Borrelia recurrentis in head lice, Ethiopia. Emerg Infect Dis. 2013;19:796–8. Piarroux R, Abedi AA, Shako JC, Kebela B, Karhemere S, Diatta G, et al. Plague epidemics and lice, Democratic Republic of the Congo. Emerg Infect Dis. 2013;19:505–6. http://dx.doi.org/10.3201/ eid1903.121542 Gratz NG. Emerging and resurging vector-borne diseases. Annu Rev Entomol. 1999;44:51–75. http://dx.doi.org/10.1146/ annurev.ento.44.1.51 Drali R, Boutellis A, Raoult D, Rolain JM, Brouqui P. Distinguishing body lice from head lice by multiplex real-time PCR analysis of the Phum_PHUM540560 gene. PLoS ONE. 2013;8:e58088. http:// dx.doi.org/10.1371/journal.pone.0058088 Angelakis E, Rolain JM, Raoult D, Brouqui P. Bartonella quintana in head louse nits. FEMS Immunol Med Microbiol. 2011;62:244–6. http://dx.doi. org/10.1111/j.1574-695X.2011.00804.x Fournier PE, Ndihokubwayo JB, Guidran J, Kelly PJ, Raoult D. Human pathogens in body and head lice. Emerg Infect Dis. 2002;8:1515–8. http://dx.doi.org/10.3201/ eid0812.020111 Bouvresse S, Socolovshi C, Berdjane Z, Durand R, Izri A, Raoult D, et al. No evidence of Bartonella quintana but detection of Acinetobacter baumannii in head lice from elementary schoolchildren in Paris. Comp Immunol Microbiol Infect Dis. 2011;34:475–7. http://dx.doi. org/10.1016/j.cimid.2011.08.007 Li W, Ortiz G, Fournier PE, Gimenez G, Reed DL, Pittendrigh B, et al. Genotyping of human lice suggests multiple emergencies of body lice from local head louse populations. PLoS Negl Trop Dis. 2010;4:e641. http://dx.doi.org/10.1371/ journal.pntd.0000641 Chosidow O, Chastang C, Brue C, Bouvet E, Izri M, Monteny N, et al. Controlled study of malathion and d-phenothrin lotions for Pediculus humanus var capitis-infested schoolchildren. Lancet. 1994;344:1724–7. http://dx.doi. org/10.1016/S0140-6736(94)92884-3 Address for correspondence: Didier Raoult, Institut Hospitalo-Universitaire Méditerranée Infection, 27 boulevard Jean Moulin, 13385 Marseille CEDEX 5, France; email: didier. raoult@gmail.com Myasthenia Gravis Associated with Acute Hepatitis E Infection in Immunocompetent Woman To the Editor: Hepatitis E virus (HEV) is a common cause of acute hepatitis in developing countries. The course of acute hepatitis E is usually benign, except in pregnant women and in immunocompromised patients, who are prone to a lethal or chronic outcome of the disease. Since 2001, hepatitis E has been emerging in industrialized countries, and neurologic manifestations such as Guillain-Barré syndrome, brachial neuritis, transverse myelitis, and cranial nerve palsies have been reported in patients with acute or chronic forms of the disease (1–6). Most cases with neurologic manifestations have been characterized by infection with genotype 3 HEV. Data are not available to indicate whether this association between HEV infection and neurologic manifestations is related to a specific antigenic stimulus provided by HEV or is linked to the more comprehensive assessment for such neurologic conditions that is available in industrialized countries or to a reporting bias. We report a case of HEV infection in an immunocompetent woman who had muscle-specific kinase (MuSK) antibody–positive myasthenia gravis associated with HEV replication. A 33-year-old woman was hospitalized in France for subacute asthenia and intermittent symptoms including dysarthria, dysphagia, muscle weakness, and diplopia. She had no family history of autoimmune disease and no notable personal medical history; she had not received any recent vaccinations and had not traveled outside France during the previous year. Physical examination showed no pyramidal, vestibular, or 78 EmergingInfectiousDiseases•www.cdc.gov/eid•Vol.20,No.5,May2014 Article DOI: http://dx.doi.org/10.3201/eid2005.131242 Bartonella quintana in Body Lice from Scalp Hair of Homeless Persons, France Technical Appendix Detailed distribution of B. quintana DNA among lice from monoinfested and dually infested homeless persons, France Technical Appendix Table 1: Distribution of B. quintana DNA among lice from dually infested homeless persons, France, October 2012–March 2013 Lice collected from body Lice collected from head Lice tested B. quintana no. (%) Lice tested B. quintana no. (%) ID code homeless persons 32 5 0 4 0 33 5 2 (40.00) 2 1 (50.00) 40 5 1 (20.00) 4 0 89 29 0 6 0 5 (16.60) B 17 0 30 D 11 2 (18.20) 10 1 (10.00) Nov 11 0 10 0 Total 83 5 (6.00) 66 7 (10.60) Technical Appendix Table 2: Detail of distribution of B. quintana DNA among lice from mono-infested homeless persons, France, October 2012–March 2013 ID no. homeless persons Body lice B. quintana 1 3 0 2 3 1 3 3 3 4 3 0 5 3 0 6 3 0 7 3 3 8 3 3 1001 69 13 1002 17 7 1003 18 6 1005 3 0 1022 10 0 1023 3 3 1029 15 9 1034 3 1 1037 8 2 1038 101 3 1040 5 1 1051 2 0 1052 74 15 1053 19 2 1054 3 1 1059 19 0 1060 3 3 1065 4 2 1066 2 1 1070 7 3 1087 23 4 1101 2 2 1105 1 0 79 ID no. homeless persons 1151 1152 1153 1155 1158 1159 1160 1161 1163 1200 1201 1202 1203 1204 1205 1206 1208 1209 1210 1211 1212 1213 1222 1223 1224 1225 1227 1228 1229 1230 1231 1232 1234 1236 1237 1238 1239 1240 1241 1242 1244 1245 1246 2002 2016 2040 2101 2103 Total (%) Body lice 10 17 1 6 4 5 3 4 1 9 24 1 1 2 1 5 21 2 23 16 5 4 46 28 2 2 2 2 18 2 6 2 10 4 44 2 2 11 1 5 2 3 7 1 34 1 1 2 840 B. quintana 5 2 0 2 0 4 0 0 1 4 0 0 0 0 0 0 2 2 13 10 1 0 1 5 0 0 0 0 3 0 1 0 1 0 19 0 0 5 1 4 0 0 0 0 0 0 0 0 174 (20.7) 80 Article III: Detection of Bartonella quintana in African Body and Head Lice American Journal of Tropical Medicine and Hygiene 91: 294-301. 81 Am. J. Trop. Med. Hyg., 91(2), 2014, pp. 294–301 doi:10.4269/ajtmh.13-0707 Copyright © 2014 by The American Society of Tropical Medicine and Hygiene Detection of Bartonella quintana in African Body and Head Lice Abdoul Karim Sangaré, Amina Boutellis, Rezak Drali, Cristina Socolovschi, Stephen C. Barker, Georges Diatta, Christophe Rogier, Marie-Marie Olive, Ogobara K. Doumbo, and Didier Raoult* Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), Unité Mixte de Recherche (UMR)63, 7278 Centre National de la Recherche Scientifique (CNRS), Institut de Recherche pour le Développement (IRD) 198, Institut National de la Santé et de la Recherche Médicale (INSERM) 1095, University of Aix, Marseille, France; IRD, Campus Commun Université Cheikh Anta Diop (UCAD)-IRD of Hann, Dakar, Senegal; Parasitology Section, School of Chemistry and Molecular Biosciences (SCMB), University of Queensland, Brisbane, Queensland, Australia; Pasteur Institute of Madagascar, Ambohitrakely, Madagascar; University of Bamako, Malaria Research and Training Center (MRTC)/Département d’Epidemiologie des Affections Parasitaires (DEAP)/Faculté de Médecine de Pharmacie et d’Odontostomatologie (FMPOS)-Unité Mixte Internationale (UMI)3189, Bamako, Mali Abstract. Currently, the body louse is the only recognized vector of Bartonella quintana, an organism that causes trench fever. In this work, we investigated the prevalence of this bacterium in human lice in different African countries. We tested 616 head lice and 424 body lice from nine African countries using real-time polymerase chain reaction targeting intergenic spacer region 2 and specific B. quintana genes. Overall, B. quintana DNA was found in 54% and 2% of body and head lice, respectively. Our results also show that there are more body lice positive for B. quintana in poor countries, which was determined by the gross domestic product, than in wealthy areas (228/403 versus 0/21, P < 0.001). A similar finding was obtained for head lice (8/226 versus 2/390, P = 0.007). Our findings suggest that head lice in Africa may be infected by B. quintana when patients live in poor economic conditions and are also exposed to body lice. INTRODUCTION Sucking lice (Anoplura) are hematophagous wingless insects that can infest birds and mammals.1 Among these hosts, humans constitute the preferred host for only two species: Pediculus humanus and Pthirus pubis (pubic lice). P. humanus includes two morphotypes: P. humanus morphotype capitis (head lice) and P. humanus morphotype humanus (body lice).2 Each louse has a specific ecotype; head lice live and lay eggs in the hair and are prevalent in all countries and all levels of society, whereas body lice live in clothing and multiply when cold, promiscuity, and lack of hygiene are present.3 Louse coloration was described at the beginning of 20th century. The variability in louse color on a single host may be affected by not only the color of the skin but also, the color of the hair and clothing.4,5 Many genetic studies have been conducted on human lice— first based on 18S ribosomal RNA6,7 and then, the mitochondrial genes (cytochrome oxidase subunit 1 [Cox1] and cytochrome b [Cytb]). These studies allowed scientists to classify lice into three different clades: Clade A, the most common clade found worldwide and comprised of both head and body lice; Clade B, composed of only head lice and found in Central and North America, Europe, and Australia8; and Clade C, including black head lice found in Nepal,9 Ethiopia,10 and Senegal.11 The body louse is linked to poverty. Its transmission occurs in crowded environments, such as homeless shelters, refugee camps, and jails, especially when hygienic standards are lacking.12 The body louse is the main vector of three pathogenic bacteria: Bartonella quintana, the agent of trench fever; Borrelia recurrentis, the agent of louse-borne relapsing fever; and Rickettsia prowazekii, the agent of epidemic typhus.13,14 B. quintana is a Gram-negative bacterium that causes trench fever, bacillary angiomatosis, endocarditis, chronic bacteremia, and chronic lymphadenopathy.15 It has typically been trans- *Address correspondence to Didier Raoult, URMITE, UM63, 7278 CNRS, IRD 198, Inserm 1095, University of Aix, 27 Bd Jean Moulin, 13005 Marseille, France. E-mail: didier.raoult@gmail.com mitted by body lice, but recently, DNA of B. quintana has also been found in head lice collected from homeless individuals in Nepal,9 the United States,16 France,17 Senegal,11 and Ethiopia.10,18 The detection of B. quintana in African lice remains limited to only a small number of countries. Therefore, the objectives of this study were to investigate the presence of B. quintana in head and body lice in different areas of African countries suffering from poverty, social instability, or war and identify the relationship between louse phenotypes and genotypes. MATERIALS AND METHODS Ethics statement. Lice from African countries were obtained from the private frozen collection of our laboratory (The Unité de Rcherche sur les Maladies Infectieuses et Tropicales Emergentes [URMITE]/World Health Organization [WHO] Collaborative Research Center). The lice in that collection were required for various epidemiological and entomological studies or to perform diagnoses abroad, and they were sent to our laboratory as a WHO reference facility. Body lice were collected from clothing and head lice were removed from hair with the verbal consent of the infested individuals. Written consent was not obtainable in the majority of cases, because most of the subjects were illiterate. However, in most instances, the investigator, local authorities/Institutional Review Boards (IRBs), and/or village/family chief approved and were present when collection was performed (with individual consent). Sampling/country. Human lice samples were collected from patients in various regions of Africa (Figure 1). Nine countries were investigated. In total, 1,040 lice were collected: 616 head lice and 424 body lice. Exactly 381 head lice were collected in Senegal (2011), 75 head lice and 22 body lice were collected in Madagascar (2009, 2011, and 2012), 14 head and body lice were collected in Ethiopia (2011), 92 head lice were collected in Mali (2010), 37 body lice were collected in Kenya (1999), 166 body lice were collected in Rwanda (2011), 10 head and body lice were collected in Burundi (2008), 35 head lice and 154 body lice were collected in Congo (2010), and 9 head lice and 21 body lice were 29483 BARTONELLA QUINTANA IN AFRICAN LICE Figure 1. Map of Africa showing the prevalence of B. quintana in head and body lice collected in the various study areas during 1999–2012. collected in Algeria (2000). In our laboratory, each sample was photographed on dorsal and ventral sides with a camera (Olympus DP71, Rungis, France). Lice were preserved in 70% alcohol, rinsed two times with sterile distilled water for 2 minutes, and dried with filter paper. Samples were then cut Figure 2. 295 in half on the longitudinal plane, and one-half was stored at −20 °C for subsequent analysis. Distribution of regions. We classified these countries into two regions: poor (with the gross domestic product [GDP] < $1,844 per capita: Madagascar, Ethiopia, Mali, Kenya, Phenotypes of head and body lice collected from African countries during 1999–2012 (Head lice: A, B and C; Body lice: D, E, F and G). 84 296 SANGARÉ AND OTHERS Rwanda, Burundi, and Congo) and wealthy (with GDP ³ $1,844 per capita: Algeria and Senegal) areas. GDP being an economic indicator of the wealth produced annually in a particular country for our classification, we estimated the average per capita GDP of all regions.19 The average GDP corresponding to the total of GDP per capita from nine countries divided by nine ($16,600/9 = $1,844) was then compared with the infection rate of B. quintana in lice. DNA preparation and detection of B. quintana in lice. After incubation at 56 °C in a dry bath overnight, the lice were extracted on an automaton EZ1 device using the QIAamp Tissue Kit (Qiagen, Hilden, Germany) according the manufacturer’s recommendations. The DNA was used as a template in a real-time polymerase chain reaction (PCR) assay targeting a portion of the Bartonella 16S–23S intergenic spacer (ITS) region and a specific B. quintana gene (yopP) Figure 3. that encodes a hypothetical intracellular effector.17 Each realtime PCR assay was performed using a CFX96 TM REALTime System C1000 Thermal Cycler (Bio-Rad Laboratories, Foster City, CA). For each PCR assay, two negative and positive controls were used. The identification of B. quintana was confirmed by amplification of both ITS2 and yopP genes. Genotypic status of lice. All samples that tested positive for B. quintana DNA were analyzed by multiplex real-time PCR that targeted a portion of the Phum PHUM540560 gene. This assay allowed for the discrimination of body lice from head lice, which has described previously.20 As a positive control, we used a head louse and body louse with genotypic statuses that were known (VIC-positive for the head louse and FAMpositive for the body louse). Monoplex and multiplex realtime PCRs were performed in a CFX96 Thermal Cycler (Bio-Rad Laboratories, Foster City, CA). Phylogenetic tree of lice based on the Cytb (using the ML method with 100 bootstrap replicates). 85 297 BARTONELLA QUINTANA IN AFRICAN LICE Standard PCR and sequencing. Lice genotype was identified by the analysis of partial (347-bp) mitochondrial Cytb DNA. The primers used for the Cytb gene were CytbF1 (5¢GAGCGACTGTAATTACTAATC-3¢) and CytbR1 (5¢-GGA CCCGGATAATTTTGTTG-3¢). Overall, 10 lice belonging to each region were tested with a standard PCR assay targeting the Cytb gene as described previously.8 Each amplification reaction was performed on a PTC-200 thermocycler machine (MJ Research, Waltham, MA). The PCR reaction contained 9.9 mL water, 4 mL buffer 5 Fusion HF Buffer, 0.4 mL 10 mM deoxynucleoside triphosphates (dNTPs), 1.25 mL each primer, 0.2 mL Phusion polymerase (Finnzymes, Thermo Scientific, Vantaa, Finland), and 3 mL DNA template to obtain a total volume of 20 mL. The cycling conditions were 98 °C for 30 seconds, 35 cycles of 98 °C for 5 seconds, 56 °C for 30 seconds, and 72 °C for 15 seconds, and a final extension time of 5 minutes at 72 °C. The success of the PCR amplification was then detected by the migration of the PCR product on 2% agarose gel (Electrophoresis grade; Invitrogen, Carlsbad, CA) prepared with 0.5% Tris Borate ethylenediaminetetraacetic (EDTA) (TBE; Euromodex, Lake Placid, NY) and charged with a solution of 0.5% ethidium bromide (Invitrogen, Carlsbad, CA). Purification of PCR-amplified products was performed using distilled RNase-DNase free water on NucleoFast 96 PCR plates (Macherey-Nagel EURL, Hoerdt, France). Sequencing of positive samples was performed using the ABI Prism Big Dye Terminator Cycle Sequencing Kit, version 1.1 (Applied Biosystems, Foster City, CA) according to the manufacturer’s instructions. Data analysis. Microsoft Excel was used for data management. Descriptive statistics, such as percentages and means, were computed to summarize the proportions of infestations + with lice. Statistical analysis was performed with Epi Info 6 (www.cdc.gov/epiinfo/Epi6/EI6dnjp.htm), and a P value of < 0.05 was considered significant. Phylogenetic analysis. Each DNA sequence was aligned using multisequence alignment software (CLUSTALX, version 2.0.11). The ChromasPro program (Technelysium PTY, Australia) was used to analyze, assemble, and correct sequences. The sequence similarities were determined using MEGA 5, and phylogenetic trees were obtained using the maximum likelihood (ML) method with 100 bootstrap replicates.21 We compared our sequences with other sequences that are present in GenBank. RESULTS Morphological analysis. Phenotypical examination of the lice showed that all head lice from Senegal, Madagascar, and Ethiopia have a black color (Figure 2A –C). The color of all body lice in Madagascar and Rwanda is black; in Kenya, all body lice are brown, whereas in Ethiopia, all body lice are gray (Figure 2D–G). During our study, the phenotypes of lice from Congo, Burundi, Mali, and Algeria were not investigated, because they had been destroyed previously for other studies. Phylogenetic analysis. On the basis of phylogenetic study of lice Clade A based on ITSs (ultispacer typing method [MST])22 and through the analysis of Cytb in this work (Figure 3), our results show that head lice from Algeria, Madagascar, Burundi, and Senegal belong to Clade A2. Clade C was found in head lice from Ethiopia, Mali, and Senegal. Clade B was found in head lice from Algeria. Based on Cytb analysis, all head and body lice that are positive for B. quintana DNA belong to Clade A2 (Table 1). Table 1 Distribution of B. quintana DNA in head lice (N = 616) and body lice (N = 424) collected from African countries during 1999–2012 Lice analyzed Country/area Senegal Yeumbeul Malika Dielmo village Ndiop village Keur Massar Total Madagascar Borenty village Tsiroanomandidy Anjozorobe Bedaro village Total Ethiopia Gondar Mali Diankabou Kenya Nairobi Rwanda Kigali Burundi Bujumbura Congo RDC Algeria Batna Total Head lice Positive B. quintana DNA (%) Body lice Head lice Body lice Cytb Head lice Body lice 101 69 71 77 63 381 0 0 0 0 0 0 0 0 2 (2.8) 0 (0) 0 2 (0.52) Clade A2 Clade A2 Clade A2 Clade C Clade A2 − − − − − 0 21 39 15 75 9 13 0 0 22 − 0 2 (5.1) 0 2 (2.66) 1 (11.1) 0 − − 1 (4.54) − Clade A2 Clade A2 Clade A2 Clade A2 Clade A2 − − 14 14 0 0 Clade C Clade A2 92 0 0 Clade C − 0 37 − 27 (72.9) − Clade A2 0 166 − 149 (89.7) − Clade A2 10 10 35 154 9 616 21 424 − − − − − − 0 6 (17.1) 0 10 (1.6) 86 1 (10) Clade A2 Clade A 50 (32.5) Clade A2 Clade A2 Clades A and B Clade A2 0 228 (53.7) 298 SANGARÉ AND OTHERS Molecular detection of B. quintana in lice. The DNA of B. quintana was detected in 10 of 616 (1.6%) head lice (the mean cycle thresholds [ct] value ± SD: 30.64 ± 6.34). Specifically, B. quintana DNA was found in 2 of 71 (2.8%) head lice from Senegal (Dielmo village), 2 of 39 (5.1%) head lice from Madagascar (Anjozorobe), and 6 of 35 (17.1%) head lice from Congo.23 No B. quintana DNA was detected in Senegal (Yeumbeul, Malika, Ndiop village, and Keur Massar), Madagascar (Tsiroanomandidy and Bedaro village), Ethiopia, Mali, Burundi, or Algeria (Table 1). The DNA of B. quintana was detected in 228 of 424 (54%) body lice (the mean ct value ± SD: 33.19 ± 3.79). Among 228 B. Quintana-positive body lice, 149 of 166 (89.7%) body lice are from Rwanda, 27 of 37 (72.9%) body lice are from Kenya, 50 of 154 (32.5%) body lice are from the Democratic Republic of Congo,23 1 (11.1%) body louse is from Madagascar, and 1 (10%) body louse is from Burundi. No B. quintana DNA was detected in the Madagascar area of Tsiroanomandidy, Ethiopia, or Algeria. There are significantly more body lice with B. quintana DNA than head lice (54% versus 1.6%, P < 0.001) (Table 1). Genotypic status of positive lice to B. quintana DNA. Among the African Clade A lice positive for B. quintana DNA, all head lice had the head louse genotype, and all body lice had the body louse genotype. No signal was detected in the negative controls. Table 2 Prevalence of infections of B. quintana in body lice (this study and the literature) Country/source Algeria Schoolchildren Homeless in Batna Madagascar Local population Ethiopia Bahir Dar Poor regions (Jimma) Poor regions (Jimma) Kenya Local population Rwanda Jail Jail Burundi Refugee camp During typhus outbreak Refugee camp After outbreak in camp During typhus outbreak Refugee camp After typhus outbreak Refugee camp Refugee camp Refugee camp Congo Local population Refugee camp Refugee camp Local population France SDF (homeless) SDF (homeless) SDF (homeless) SDF (homeless) Tunisia Homeless in Sousse Zimbabwe Homeless in Harare The Netherlands Homeless in Utrecht United States SDF (homeless) Nepal Street children and children in slums Russia Homeless in Moscow Australia Homeless Peru Andean rural population Andean rural population Year of collection Percent (no. B. quintana/no. tested) Source 0 (0/21) 0 (0/33) This study 2009/2011/2012 4.5 (1/22) This study 2011 2010 2010 0 (0/14) 3 (1/33) 18 (76/424) This study 2000 2001 30 29 10 1999 72.9 (27/37) This study 2011 2001 89.7 (149/166) 2.3 (6/262) This study 2008 1997 1997 1998 1997 1997 1998 1998 2000 2001 10 (1/10) 0 (0/10) 9.5 (6/63) 14.3 (13/91) 0 (0/10) 9.5 (6/63) 14.3 (13/91) 21 (8/38) 90 (100/111) 93.9 (31/33) This study 2010 1998 1998 2010 32.5 (50/154) 0 (0/7) 0 (0/7) 32.5 (50/154) This study 1997 1998 2000 1998–2001 20 (3/15) 4 (3/75) 26 (42/161) 9.8 (32/324) 2000 0 (0/3) 30 32 32 32 30 30 30 30 30 30 32 30 23 34 32 33 30 30 30–32 1998 16.7 (2/12) 2001 36 (9/25) 30 33.3 (11/33) 16 2002 20 (4/20) 9 1998 12.3 (33/268) 32 2001 0 (0/2) 30 NA NA 1.4 (1/73) 0 (0/10) 32 2007–2008 NA = not available. 87 30 299 BARTONELLA QUINTANA IN AFRICAN LICE Relationship between B. quintana in body or head lice and socioeconomic level. We compared our results with the life conditions of the regions tested and found that the body lice that were B. quintana-positive were more likely to be found in poor countries than wealthy countries (228/403 versus 0/21, P < 0.001). The same finding was made for head lice (8/226 versus 2/390, P = 0.007). We correlated the GDP to the level of B. quintana infection. Our results indicate that the higher the GDP in a region, the less prevalent that B. quintana DNA was and vice versa (correlation r = −0.178). DISCUSSION This study of 1,040 human lice of the genus Pediculus collected from nine African countries has enabled us to better specify some characteristics of human lice. The phenotypic study allowed us to confirm several previously described observations, including the black phenotype of head lice in Senegal and Ethiopia.10,11,24 For the first time, we have established the phenotype of lice collected in Madagascar and Kenya. Body lice from Madagascar and Rwanda are black; body lice collected in Kenya are brown. The head lice from Madagascar had the same black color as body lice col- lected in this country (Figure 2). In addition, it seems that the color of lice is more complex than indicated in the first findings provided in 1926 by Ewing,25 and as suggested by a recent study,10 lice color may be independent of the host’s skin color. On the basis of phylogenetic study of lice Clade A, based on ITSs (MST)22 and through the analysis of Cytb in this work (Figure 3), we confirmed that head lice in Senegal are Clades A2 and C11 and that head lice in Ethiopia are Clade C.10 In addition, we have found that head lice in Madagascar, Burundi, Congo, and Algeria belong to Clade A2 and that head lice in Mali are Clade C (Figure 3). The body lice of Algeria, Ethiopia, Madagascar, Kenya, Burundi, and Rwanda belong to Clade A2; it is the main clade in sub-Saharan Africa.26 Therefore, the geographical distribution of lice seems to be complex and independent of the phenotype. B. quintana is a re-emerging pathogen that is responsible for a range of clinical manifestations in humans.27 It has long been established that trench fever can be transmitted by the body louse.28 However, the role played by the head louse as a reservoir or vector of B. quintana remains unclear.29 In total, B. quintana was found in 54% and 2% of body and head lice collected in Africa, respectively. Here, we find that there are more B. quintana in body lice than head lice. This finding could probably be explained through the role played by Table 3 Prevalence of infections of B. quintana in head lice (this study and the literature) Country/source Algeria Schoolchildren Schoolchildren Burundi Schoolchildren Schoolchildren Senegal Rural community Rural community Ethiopia Poor region Poor regions (Jimma) Poor regions (Jimma) Congo Local population Local population Madagascar Local population Mali Schoolchildren Portugal Schoolchildren China Schoolchildren Thailand Schoolchildren Australia Schoolchildren United States SDF (homeless) Nepal Street children and children in slums Russia Schoolchildren France Schoolchildren Schoolchildren SDF (homeless) Year of collection Percent (no. B. quintana/no. tested) Source 2000 NA 0 (0/9) 0 (0/18) This study 2008 NA 0 (0/10) 0 (0/20) This study 2011 NA 0.52 (2/381) 6.9 (19/274) This study 2011 2010 2010 0 (0/14) 7 (19/271) 9.2 (6/65) This study 2010 2010 30 30 11 10 29 17.1 (6/35) 17.1 (6/35) This study 2.6 (2/75) This study 2010 0 (0/92) This study NA 0 (0/20) 30 NA 0 (0/23) 30 NA 0 (0/29) 30 NA 0 (0/3) 30 2007–2008 25 (3/12) 16 2002 9.5 (2/21) 9 NA 0 (0/10) 30 2010–2011 NA 2008–2009 2008 0 (0/20) 0 (0/288) 100 (3/3) NA = not available. 88 23 30 31 17 300 SANGARÉ AND OTHERS the body louse in transmission of diseases. With the new method of multiplex real-time PCR assay with the Phum_ PHUM540560 gene, all head lice were genotyped as head lice by the signal emitted by the VIC-labeled probe specific to head lice, and all body lice were genotyped as body lice by the signal emitted by the FAM-labeled probe specific to body lice. In our study, the infection rate was higher in Rwanda (149/ 166 versus 6/262, P < 0.001) (Table 2) and lower in Burundi (1/ 10 versus 158/346, P = 0.025) than the rate reported in 2002 by Fournier and others.30 These differences could be explained by the living conditions in jail in Rwanda and probably, the sample size in this study in Burundi. We have confirmed the presence of B. quintana in body lice in Rwanda and Burundi.30 B. quintana has also been detected in body lice from homeless people in Zimbabwe (16.7%, 2/12).30 This bacterium has not been found in body lice in Tunisia.30 We detected B. quintana for the first time in body lice collected in Madagascar (4.54%, 1/22) and Kenya (72.9%, 27/37). The high rate of B. quintana in body lice in some African countries (Kenya, Rwanda, and Congo) may reflect the low socioeconomic level of the study population. We tested this hypothesis by comparing the average GDPs of nine different countries with the level of B. quintana infection. We found that the higher the GDP increases, the lower the level of B. quintana decreases and vice versa (correlation r = −0.178). For example, for countries with high GDP, this hypothesis could be justified through the previous work by Fournier and others30 in 2002, which reported 0% B. quintana in head lice in Portugal, China, Thailand, Australia, Algeria, and France.30 This percentage of infection with B. quintana remains stable (0%) in body lice in Australia, Algeria, and Peru. In France, Bouvresse and others31 also found the same result (0%) in head lice. Roux and Raoult32 reported a rate of 1.4% in body lice in Peru. For countries with low GDP, this hypothesis could be confirmed by the work of Piarroux and others23 in 2010, which reported 32.5% B. quintna in body lice in Congo, and the work of Fournier and others,30 which found a higher prevalence of 93.9% B. quintana in body lice in Burundi (a refugee camp in 2001). Elsewhere, we compared the infection rate in B. quintana body lice in people in Africa with the infection rate in B. quintana body lice in homeless people in Marseille, France,30,32,33 and the result was statistically significant (228/424 versus 77/560, P < 0.001) (Table 2). In this study, we show a relationship between B. quintana presence in body lice and socioeconomic level, and we found that the body lice that were B. quintana-positive were more likely to be found in poor countries (GDP < $1,844 per capita) than wealthy countries (GDP > $1,844 per capita; 228/403 versus 0/21, P < 0.001). Head lice can also be infected with B. quintana. In our study, we detected the DNA of B. quintana in 1.6% (10/616) of head lice collected: in Senegal, 0.52% (2/381); in Madagascar for the first time, 2.66% (2/75); in the Congo, 17.1% (6/35). B. quintana was detected in 7% (19/274) of head lice collected in Dakar, Senegal11 and 9.2% (6/65) of head lice pools and 7% (19/271) of head lice on persons living in the poorest areas of Jimma, Ethiopia.10,29 No B. quintana DNA was detected in head lice from schoolchildren in Marseille, France,30,31 contrary to the work by Angelakis and others,10 which have reported this result in the homeless population. In Russia, Portugal, Algeria, Burundi, China, Thailand, and Australia, no B. quintana was found in schoolchildren30 (Table 3). In this study, we also found the head lice that were B. quintana-positive were more likely to be found in poor countries (GDP < $1,844 per capita) than wealthy countries (GDP > $1,844 per capita; 8/226 versus 2/390, P < 0.007). Head lice are prevalent around the world and in all levels of society. Thus, head lice may be infected with B. quintana when the host is coinfected with body lice in a precarious environment in which proper hygiene is lacking. In conclusion, it has been estimated that trench fever affected several million people, especially in Russia and on the Eastern, Central, and Western European fronts during World War II.12,15 Our study on the prevalence of B. quintana in lice from various geographical and socioecological situations associated with clinical information will help to evaluate the role of head lice in the transmission of this disease. Received December 5, 2013. Accepted for publication February 14, 2014. Published online June 16, 2014. Acknowledgments: The authors thank Mr. Jean-Michel Berenger (entomologist) and the molecular biology team of URMITE Marseille for their technical support. Authors’ addresses: Abdoul Karim Sangaré, Amina Boutellis, Rezak Drali, Cristina Socolovschi, Georges Diatta, and Didier Raoult, URMITE, UM63, 7278 CNRS, IRD 198, Inserm 1095, University of Aix, Marseille, France, and IRD, Campus Commun UCAD-IRD of Hann, Dakar, Senegal, E-mails: sangareak@icermali.org, amina. boutell@yahoo.fr, rezakdrali@hotmail.com, cr_socolovschi@yahoo. com, georges.diatta@ird.fr, and didier.raoult@gmail.com. Stephen C. Barker, Parasitology Section, School of Chemistry and Molecular Biosciences (SCMB), University of Queensland, Brisbane, Queensland, Australia, E-mail: s.barker@uq.edu.au. Christophe Rogier and MarieMarie Olive, Pasteur Institute of Madagascar, Ambohitrakely, Madagascar, E-mails: crogier@pasteur.mg and mmolive@pasteur.mg. Ogobara K. Doumbo, University of Bamako, MRTC/DEAP/FMPOSUMI3189, Bamako, Mali, E-mail: okd@icermali.org. REFERENCES 1. Barker SC, 1994. Phylogeny and classification, origins, and evolution of host associations of lice. Int J Parasitol 24: 1285–1291. 2. Light JE, Toups MA, Reed DL, 2008. What’s in a name: the taxonomic status of human head and body lice. Mol Phylogenet Evol 47: 1203–1216. 3. Badiaga S, Brouqui P, 2012. Human louse-transmitted infectious diseases. Clin Microbiol Infect 18: 332–337. 4. Nuttall GHF, 1917. The biology of Pediculus humanus. Parasitology 10: 80–185. 5. Busvine JR, 1946. On the pigmentation of the body louse pediculus humanus L. In Proceedings of the Royal Entomological Society of London. Series A, General Entomology (Vol. 21, No. 10–12, pp. 98–103). Blackwell Publishing Ltd. 6. Yong Z, Fournier PE, Rydkina E, Raoult D, 2003. The geographical segregation of human lice preceded that of Pediculus humanus capitis and Pediculus humanus humanus. C R Biol 326: 565–574. 7. Leo NP, Barker SC, 2005. Unravelling the evolution of the head lice and body lice of humans. Parasitol Res 98: 44–47. 8. Raoult D, Reed DL, Dittmar K, Kirchman JJ, Rolain JM, Guillen S, Light JE, 2008. Molecular identification of lice from pre-Columbian mummies. J Infect Dis 197: 535–543. 9. Sasaki T, Poudel SK, Isawa H, Hayashi T, Seki N, Tomita T, Sawabe K, Kobayashi M, 2006. First molecular evidence of Bartonella quintana in Pediculus humanus capitis (Phthiraptera: Pediculidae), collected from Nepalese children. J Med Entomol 43: 110–112. 10. Angelakis E, Diatta G, Abdissa A, Trape JF, Mediannikov O, Richet H, Raoult D, 2011. Altitude-dependent Bartonella quintana genotype C in head lice, Ethiopia. Emerg Infect Dis 17: 2357–2359. 89 BARTONELLA QUINTANA IN AFRICAN LICE 11. Boutellis A, Veracx A, Angelakis E, Diatta G, Mediannikov O, Trape JF, Raoult D, 2012. Bartonella quintana in head lice from Senegal. Vector Borne Zoonotic Dis 12: 564–567. 12. Brouqui P, 2011. Arthropod-borne diseases associated with political and social disorder. Annu Rev Entomol 56: 357–374. 13. Cutler SJ, 2010. Relapsing fever–a forgotten disease revealed. J Appl Microbiol 108: 1115–1122. 14. 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Chapitre 2 : Distribution phylogéographique des poux humains contemporains et anciens 91 Préambule Les poux comptent parmi les plus anciens parasites obligatoires de l'Homme, ce qui fait d’eux un excellent marqueur de l'évolution et de la migration des espèces du genre Homo au fil du temps [23]. Les nombreuses études basées sur les analyses de phylogénie des gènes mitochondriaux ont montré que les poux humains étaient (i) distribués à l’intérieur de trois clades, les Clades A, B et C et (ii) une relation phylogéographique existait entre ces trois clades [47,48]. Ainsi, si le Clade A composé de poux de tête et de poux de corps avait une distribution géographique mondiale, les deux autres clades avaient une distribution géographique plus restreinte. le Clade B d’origine américaine [26] est retrouvé maintenant en Europe, en Australie et en Algérie alors que le Clade C est distribué en Afrique et au Népal [49]. Dans ce chapitre nous présentons les résultats que nous avons obtenus grâce à l’analyse de poux humains rares et précieux, ce qui nous a valu quelques surprises. Dans le premier papier, nous rapportons pour la première fois l’existence d’un quatrième clade mitochondrial (Clade D) en République Démocratique du Congo. Comme le Clade A, le Clade D 93 renferme des poux de tête et des poux de corps chez qui on a détecté de l’ADN de B. quintana et de Y. pestis. Dans le deuxième papier, l'analyse d’anciennes lentes de poux de tête provenant d'Israël datant de 2 périodes différentes, chalcolithique (4.000 avant JC) et période islamique (650-810 AD), a permis d'affirmer qu'elles appartenaient probablement à des personnes originaires de l'Afrique de l'Ouest en raison de leur appartenance à un sous clade mitochondrial spécifique à cette région. Dans le troisième papier, nous avons confirmé l’origine américaine du Clade B à travers l’analyse des lentes de poux de momies précolombienne datant de 4.000 ans [25]. 94 Article IV: A New Clade of African Body and Head Lice Infected by Bartonella quintana and Yersinia pestis – Democratic Republic of the Congo Accepté avec révisions mineures dans American Journal of Tropical Medicine and Hygiene 95 American Journal of Tropical Medicine & Hygiene � � � � � � ������������������������������������������������������ ������������������������� ��������������������������������������������������� � � Fo ��������� ������������������������������������������������ ��������������� �������������� rP ����������������� ������������� ������������������������������ ������������ rR ee �������������������������� ���������������������������������������������������������������� ���������������������������������������������������������������������� ����������� 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22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 American Journal of Tropical Medicine & Hygiene 1 98 American Journal of Tropical Medicine & Hygiene 25 �������������������������������������������������������������������������������� 26 ��������������������������������������������������������������������������������������� 27 ������������������������������������������������������������������������������������������� 28 ���������������������������������������������������������������������������������������������� 29 ������������������������������������������������������������������������������������ 30 �������������������������������������������������������������������������������������������� 31 ���������������������������������������������������������������������������������������������� 32 ���������������������������������������������������������������������������������������� 33 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��������������������������������������������������������������������������������� 126 ���������������������������������������������������� ����������������������������������� 127 ���������������������������������������������������������������������������������������� 128 ����������������������������������������������������������������������������������������������� 129 �������������������������������������������������������������������������������������� 130 ���������������������� ������������������������ ���������������������������������������������� 131 �������������������������������������������������������������������������������������� 132 �������������������������������������������������������������������������������� 133 �������������������������������������������� 134 �������������������������������������������������������������������������������������������� 135 ����������������������� 136 � 137 � 138 � 139 � 140 � 141 � 142 � 143 � 144 � 145 � 146 � 147 � 148 � w ie ev rR ee 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louse Head louse iew Head louse Head louse ev rR ee rP Body louse Yersinia pestis Borrelia recurrentis Bartonella quintana Rickettsia prowazekii (B) 106 Figure: Maximum-likelihood (ML) phylogram of the mitochondrial cytochrome b (cytb) gene. (A) American Journal of Tropical Medicine & Hygiene Article V: Studies of Ancient Lice Reveal Unsuspected Past Migrations of Vectors Accepté avec révisions mineures dans American Journal of Tropical Medicine and Hygiene 107 American Journal of Tropical Medicine & Hygiene ����������������������������������������������������������� ����������� ��������� ������������������������������������������������ Fo ��������������� �������������� ����������������� ������������� rP ������������������������������ ������������ rR ee �������������������������� ���������������������������������������������������������������� ������������������������������������������������������������������� ������������������������������������������������������������������������ ������������������������������������������������������������������������� ����������������������� ������������������������������������������������������������������� ������������������������������������������������������������������������ ������������������������������������������������������������������������� ����������������������� ������������������������������������������������������������������ ����������� ������������������������������������������������������������������� w ie ev 109 Page 1 of 9 1 LRH: DRALI AND OTHERS 2 RRH: PAST MIGRATIONS OF VECTORS Studies of ancient lice reveal unsuspected past migrations of vectors 3 4 5 Rezak Drali, Kosta Y. Mumcuoglu, Gonca Yesilyurt, Didier Raoult 6 ������������������������������������������������������������������������������������ 7 ���������������������������������������������������������������������������������������� 8 ����������������������������������������������������������������������������������������� 9 ������������������������������������������������������������������������������������� 10 ��������������������������������������������������������������������������������������� 11 ���������������������������������������������������������������������������������������� 12 ������������������������������������������������������������������� ee rP Fo 13 Abstract��The analysis of ancient head louse eggs recovered from Israel dating from 14 Chalcolithic period (four millennium B.C.) and early Islamic period (650 – 810 A.D.) allowed 15 to affirm that they probably belonged to people originating from West Africa because of their 16 belonging to the mitochondrial sub clade specific to that region. ev rR 17 w ie 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 American Journal of Tropical Medicine & Hygiene 18 19 20 Address correspondence to: Didier Raoult, Unité de Recherche sur les Maladies Infectieuses 21 et Tropicales Emergentes (URMITE), Faculté de Médecine, 27 Blvd Jean Moulin, 13385 22 Marseille cedex 5, France. Email: didier.raoult@gmail.com 23 24 � 25 ���������������������������, ancient lice, paleo-entomology, past migration of vectors� 1 110 American Journal of Tropical Medicine & Hygiene 26 Head lice (�������������������������) and body lice (�������������������������) 27 are strict bloodsucking ectoparasites of humans, and each species lives in a specific ecological 28 niche: hair for head lice, clothing for body lice.1 Hundreds millions of children worldwide are 29 continually infested by head lice unrelated to hygienic conditions, resulting in insomnia and 30 itching.2 Body lice exclusively infest populations exposed to stressful life conditions, such as 31 the homeless, prisoners and war refugees, and can serve as a vector for three serious humans 32 diseases, namely, epidemic typhus, trench fever and relapsing fever caused by ���������� 33 ����������, ���������� �������� and ��������������������, respectively.1 Body lice are also 34 suspected to be able to host and transmit ���������������, the agent of plague. 3 Genetically, 35 human lice are distributed into three mitochondrial clades (A, B and C), whereby only Clade 36 A comprises head and body lice.4 Clade A is found on all continents, whereas Clade B, with 37 an assignment of an American origin, is present in Europe and Australia and was recently 38 characterized in North Africa. Lastly, Clade C is to date limited to Africa and Asia. 5 rR ee rP Fo 39 Lice are among the oldest parasites of humans, thus representing an excellent marker 40 of the evolution and migration of the Homo species over time. 4 For centuries, archaeologists 41 excavating soil in different locations around the world have found nits, lice and/or combs on 42 mummies or human remains with ages varying between 300 and 10,000 years (see 6 for a 43 review). The most ancient specimens (nits from hair, 10,000 years old) were found in Brazil, 44 South America.7 However, few molecular data on ancient lice are available. In 2008, Raoult 45 et al. showed that the most prevalent and well-distributed clade of lice (A) had a pre- 46 Columbian presence on the American continent.8 In 2013, Boutellis et al� confirmed this 47 result and demonstrated that Clade B also had a presence of at least 4,000 years in America 48 and that Clades A and B could live in sympatry.9 w ie ev 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 Page 2 of 9 2 111 Page 3 of 9 49 In the present work, we obtained and analyzed ancient head louse eggs recovered from 50 Israel dating from two different periods, namely, the Chalcolithic (four millennium B.C.) and 51 early Islamic periods (650 – 810 A.D.). 52 In 2014, two lots of ancient head louse nits recovered from human remains in Israel 53 were sent to our laboratory for molecular analysis. A total of seven samples were examined. 54 Five operculated nits were found on hair remains in the Cave of the Treasure located at Nahal 55 Mishmar, in the Judean Desert, which date to the Chalcolithic period. 10 The two other nit 56 samples were found on human hair remains belonging to a population who lived in Nahal 57 Omer in the Arava Valley (between Dead Sea and Red Sea) during the Early Islamic Period 58 (650 – 810 A.D.). The site appears to have been a way-station on the north-south Arava route 59 and on the Spice Route between Petra and Gaza.11,12 The operculum on the eggs was most 60 likely detached during the centuries, but the embryos were still present inside the eggs. ee rP 61 Fo The nits were photographed using an Axio Zoom V16 (Carl Zeiss AG, Germany). rR 62 DNA extraction was performed as previously described.9 To determine the clade of the 63 specimens, an 89-bp fragment of the mitochondrial cytochrome b gene (����) was targeted. A 64 sensitive tool based on the real-time PCR with a hydrolysis probe that was useful to detect 65 and amplify ancient DNA was developed. A pair of primers (the reverse primer was 66 degenerate) that can amplify the different known clades of lice was used: cytbF (5’- 67 AGTGTGAGGAGGGTTTTCAG-3’) and cytbR (5’-CAAACCCCAAYAAVAYAAACGG- 68 3’). A TaqMan© FAM-labeled probe that contained non-fluorescent quencher conjugated to a 69 minor groove binder (MGB) at the 3’ was designed: FAM- 70 CTACTTTAGAGCGGTTGTTTACTC-MGB (Applied Biosystems, Courtaboeuf, France). w ie 71 ev 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 American Journal of Tropical Medicine & Hygiene Real-time PCR was performed using the CFX96 thermal cycler (Bio-Rad 72 Laboratories, Foster City, CA, USA). The final reaction volume of 20 µL contained 3 µL of 73 the DNA template, 10 µL of 2x QuantiTect™ Probe PCR Master Mix (Qiagen), 0.5 µM of 3 112 American Journal of Tropical Medicine & Hygiene 74 each primer and 0.2 µM of the FAM-labeled probe. The thermocycling parameters consisted 75 of 95°C for 15 min and 40 cycles of 95°C for 10 s and 60°C for 30 s. No-template controls 76 (NTCs) were included in RT-PCR assay. The products of the real-time PCR amplifications 77 were sequenced as previously described.9 The nucleotide sequences obtained were aligned, 78 and phylogenetic analyses were performed as previously described.9 79 The appearance of nits under the microscope shows that they were well preserved 80 despite the many centuries spent underground. As shown in Figure 1, we can distinguish the 81 eyes, legs and claws of embryos still inside the operculated nits. 82 RT-PCR was positive for the seven samples of ancient DNA tested (32 < Ct < 34). The Ct 83 value was 20 in the positive control; no fluorescence was detected in the negative control. 84 A Maximum-Likelihood phylogenetic analysis performed for the cytb gene showed that the 85 ancient hair nits belonging to the Chalcolithic and early Islamic periods are part of Clade C. 86 Within Clade C, these nits form a sub-clade with lice found in Senegal (Figure 2). 87 Nonetheless, the ancient DNA sequences are quite unique and are different compared to 88 known sequences of contemporary lice. ev rR ee rP 89 Fo In this work, the first molecular data on lice infesting the ancient inhabitants of the 90 Near East were compiled. The tool implemented here based on the real-time PCR was 91 effective in preventing the difficulties associated with the analysis of ancient DNA, which is 92 often damaged or in a very low concentration.13 93 w ie 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 Page 4 of 9 Interestingly, this study reveals the presence of a mitochondrial genotype, Clade C, in 94 a Near East region that has thus far only been found in Africa (Ethiopia and Senegal) and Asia 95 (Nepal).5 Specifically, these old nits are included in a subgroup in Clade C comprising 96 contemporary lice that are characterized only in West Africa. The presence of this genotype in 97 the Near East is necessarily linked to migration flows of humans through the ages. The slave 98 trade practiced by Arab tribes to supply the Near and Middle East in manpower existed for a 4 113 Page 5 of 9 99 long time.14 The genetic information available today suggests that significant gene flow most 100 likely occurred within the past ∼2,500 years between sub-Saharan African and Near East 101 populations.15 102 Thus, the study of ancient lice provides a wealth of interesting information for 103 understanding and elucidating the migration of our species throughout history and also 104 information about the circulation of pathogens transmitted by lice. Indeed, lice have proven to 105 be an excellent recorder, allowing explanations of what occurred when discovering certain 106 mass graves. In 2006, Raoult et al. concluded that louse-borne infectious diseases that 107 affected nearly one-third of Napoleon’s soldiers buried in Vilnius might have been a major 108 factor of mortality in the French retreat from Russia. 13 rP 109 Fo In conclusion, we assert that the study of ancient lice is very useful to understand the ee 110 circulation of vectors, the flow of vector-borne pathogens and the migratory flu hosts of these 111 vectors. 112 ����������������� 113 We thank Jean-Michel BERENGER (Entomologist) and Abdul Karim SANGARÉ for their 114 technical support. 115 ���������������������� 116 The authors declare they have no conflict of interest. 117 �����������������: Rezak Drali and Didier Raoult, Unité de Recherche sur les Maladies 118 Infectieuses et Tropicales Emergentes (URMITE), Centre National de la Recherche 119 Scientifique No. 7278 (CNRS7278), Institut de Recherche pour le Développement No. 198 120 (IRD198), Institut National de la Santé et de la Recherche Médicale Unité No. 1095 121 (InsermU1095), Institut Hospitalo-Universitaire Méditerranée-Infection, Aix-Marseille 122 Université, Marseille, France, Emails: rezakdrali@hotmail.com, didier.raoult@gmail.com. 123 Kosta Y. Mumcuoglu and Gonca Yesilyurt, Department of Microbiology and Molecular w ie ev rR 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 American Journal of Tropical Medicine & Hygiene 5 114 American Journal of Tropical Medicine & Hygiene 124 Genetics, The Kuvin Center for the Study of Infectious and Tropical Diseases, Hadassah 125 Medical School, The Hebrew University, Jerusalem, Israel, Emails: kostasm@ekmd.huji.ac.il, 126 emine.gonca.yesilyurt@gmail.com. 127 References 128 129 130 131 132 1. Raoult D, Roux V, 1999. The body louse as a vector of reemerging human diseases. ����� ���������� ��: 888-911. Fo 2. Chosidow O, Chastang C, Brue C, Bouvet E, Izri M, Monteny N, Bastuji-Garin S, 133 Rousset JJ, Revuz J, 1994. Controlled study of malathion and d-phenothrin lotions 134 for ����������������� var �������-infested schoolchildren. ����������: 1724-1727. 135 3. Houhamdi L, Lepidi H, Drancourt M, Raoult D, 2006. Experimental model to evaluate ee 136 rP the human body louse as a vector of plague. ����������������� 1589-1596. 137 4. Reed DL, Smith VS, Hammond SL, Rogers AR, Clayton DH, 2004. Genetic analysis of 138 lice supports direct contact between modern and archaic humans. ������������ e340. 139 5. Boutellis A, Abi-Rached L, Raoult D, 2014. The origin and distribution of human lice in the world. ��������������������� 209-217. w ie 141 ev 140 rR 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 Page 6 of 9 6. Mumcuoglu KY, 2008. Human lice: Pediculus and Pthirus. In: Raoult, Drancourt, 142 editors. Paleomicrobiology: Past Human Infections. Berlin: Springer-Verlag. pp. 143 215-222. 144 145 7. Araujo A, Ferreira LF, Guidon N, Maues Da Serra FN, Reinhard KJ, Dittmar K, 2000. Ten thousand years of head lice infection. ������������������� 269. 146 8. Raoult D, Reed DL, Dittmar K, Kirchman JJ, Rolain JM, Guillen S, Light JE, 2008. 147 Molecular identification of lice from pre-Columbian mummies. ����������������� 148 535-543. 149 9. Boutellis A, Drali R, Rivera MA, Mumcuoglu KY, Raoult D, 2013. Evidence of 150 sympatry of clade A and clade B head lice in a pre-Columbian Chilean mummy from 151 Camarones. ����������� e76818. 6 115 Page 7 of 9 152 153 154 155 156 157 10. Bar-Adon P, 1980. The cave of the treasure: The finds from the caves in Nahal Mishmar. ������������������������������������. 11. Baginski A, Shamir O, 1995. Early Islamic textiles, basketry and cordage from Nahal Omer, Israel. ���������� 21-42. 12. Negev A, 1966. The Date of the Petra-Gaza Road. ����������������������������������� 89-98. 158 13. Raoult D, Dutour O, Houhamdi L, Jankauskas R, Fournier PE, Ardagna Y, Drancourt 159 M, Signoli M, La VD, Macia Y, Aboudharam G, 2006. Evidence for louse- 160 transmitted diseases in soldiers of Napoleon's Grand Army in Vilnius. ������������� 161 ���� 112-120. 163 University Press. 15. Richards M, Rengo C, Cruciani F, Gratrix F, Wilson JF, Scozzari R, Macaulay V, ee 164 14. Lewis B, 1992. Race and slavry in the Middle East: an historical enquiry. Oxford rP 162 Fo 165 Torroni A, 2003. Extensive female-mediated gene flow from sub-Saharan Africa 166 into near eastern Arab populations. ������������������ 1058-1064. w ie ev rR 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 American Journal of Tropical Medicine & Hygiene 7 116 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 iew ev rR ee rP 117 Figure 1: Operculated head louse egg recovered from Israel dating from Chalcolithic period (four millennium B.C.) Fo American Journal of Tropical Medicine & Hygiene Page 8 of 9 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 Page 9 of 9 92 50 Clade-B36 Clade C the right of each tree. 118 ML bootstrap that support values greater than 50 are located above the nodes. Mitochondrial clade memberships are indicated to Figure 2. Maximum-likelihood (ML) phylogram of cytochrome b gene. P.schaeffi Chalcolithic-27 iew Chalcolithic-30 Clade-C39_Senegal Islamic-11 Chalcolithic-29 Chalcolithic-5 Chalcolithic-36 Islamic-9 Clade-C42_Ethiopia Clade-C44_Nepal ev 90 Clade A Clade B Clade-A12 Clade-A5 Clade-B33 55 Clade-A17 rR ee rP 0.05 Fo 62 56 American Journal of Tropical Medicine & Hygiene Article VI: Evidence of Sympatry of Clade A and Clade B Head Lice in A Pre-Columbian Chilean Mummy from Camarones PLoS One 8: e76818. 119 Evidence of Sympatry of Clade A and Clade B Head Lice in a Pre-Columbian Chilean Mummy from Camarones Amina Boutellis1, Rezak Drali1, Mario A. Rivera2, Kosta Y. Mumcuoglu3, Didier Raoult1* 1 Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes: URMITE, Aix Marseille Université, UMR CNRS 7278, IRD 198, INSERM 1095. Faculté de Médecine, 27 Bd Jean Moulin, Marseille, France, 2 Programa Identidad del Fin del Mundo. Universidad de Magallanes-Mineduc, Punta Arenas, Chile, 3 Department of Microbiology and Molecular Genetics, The Kuvin Center for the Study of Infectious and Tropical Diseases, Hadassah Medical School, The Hebrew University, Jerusalem, Israel Abstract Three different lineages of head lice are known to parasitize humans. Clade A, which is currently worldwide in distribution, was previously demonstrated to be present in the Americas before the time of Columbus. The two other types of head lice are geographically restricted to America and Australia for clade B and to Africa and Asia for clade C. In this study, we tested two operculated nits from a 4,000-year-old Chilean mummy of Camarones for the presence of the partial Cytb mitochondrial gene (270 bp). Our finding shows that clade B head lice were present in America before the arrival of the European colonists. Citation: Boutellis A, Drali R, Rivera MA, Mumcuoglu KY, Raoult D (2013) Evidence of Sympatry of Clade A and Clade B Head Lice in a Pre-Columbian Chilean Mummy from Camarones. PLoS ONE 8(10): e76818. doi:10.1371/journal.pone.0076818 Editor: Michael Knapp, Bangor University, United Kingdom Received April 22, 2013; Accepted August 29, 2013; Published October 30, 2013 Copyright: � 2013 Boutellis et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: These authors have no support or funding to report. Competing Interests: The authors have declared that no competing interests exist. * E-mail: didier.raoult@gmail.com Introduction have contributed to populating the Americas. In the current study, two operculated nits from a mummy found in Camarones, Chile, were tested to identify the mitochondrial phylotypes of the lice. Pediculus humanus capitis is an ancient human parasite most likely associated with humans since our pre-hominid ancestor and dispersed throughout the world by early human migrants [1]. Louse infestation in ancient human populations has been recorded in different geographic regions of the world [2] and even affected wealthy social classes, such as the 15th-century King of Naples, Ferdinand II of Aragon [3]. The oldest head louse nit was found on a hair from an archaeological site in northeastern Brazil and was dated to 8,000 B.C. [4]. The oldest such finding in Asia is 9,000 years old, obtained from a hair sample from an individual who lived in the Nahal Hemar cave in Israel [5]. Head lice have also been found at archaeological sites in the southwestern USA, the Aleutian Islands, Peru, Greenland and Mexico and on mummies that were Incan sacrifices [4]. Recently, another discovery of lice was reported for a Maitas Chiribaya mummy from Arica, in northern Chile, dating to 670–990 A.D. (calibrated) [6]. The evidence for the presence of ectoparasites on ancient Americans indicates that head lice most likely arrived with the first human colonists who entered the Americas [7]. However, by amplifying mitochondrial DNA (mtDNA) of part of two genes (Cytb and Cox1) belonging to 10,000-year-old lice collected from Peruvian mummies, Raoult and colleagues demonstrated that the worldwide clade A louse was in the Americas before the time of Columbus [8]. Two other clades of head lice have been reported and have a specific geographical distribution: clade C is specifically restricted to head lice in Ethiopia, Nepal and Senegal [9], whereas the clade B head lice are found in North and Central America, Australia and certain European countries [7]. However, the origin of clade B head lice remains unknown because no lice with this phylotype have been reported in Asia or in any region suspected to PLOS ONE | www.plosone.org Materials and Methods Hair samples from seven mummies from Camarones 15-D, Chile, carbon-dated to ca. 4,000 B.C., were examined for the presence of head lice (Figure 1), and in six hair samples, the nits of head lice were found. No body louse was found on these mummies. The material (nits fixed on hair) of one mummy was stored in 70% ethyl alcohol for the last 10 years and was sent to our laboratory in Marseilles in September 2012. A first screening of the quality of the nits was performed using our ZEISS zoom microscope with a fixed camera (ZEISS AXIO ZOOM.V16. France), and then two operculated nits were selected for our study (Figure 2). The two nits were rinsed twice in sterile water then crushed with a scalpel. The total genomic DNA was extracted and eluted in a 50 ml volume with a QIAamp Tissue Kit (Qiagen, Courtaboeuf, France) with an EZ1 apparatus, as described by the manufacturer. The extracted genomic DNA concentrations were 1.8 ng/ml and 1.3 ng/ml for the two nits, and the DNA samples were stored at 220uC under sterile conditions to avoid cross-contamination until further processing. The DNA of the two nits was amplified using a suicide nested polymerase chain reaction (PCR) protocol (re-amplification without positive control) with a partial Cytb gene (270 bp) primers, as previously described [11]. The same primers were used for both amplifications. PCR reactions were prepared on ice and contained 3 ml of the DNA template, 4 ml of 5X HF Phusion Buffer, 250 mM of each nucleotide, 0.5 mM of each primer, 0.2 ml of Phusion DNA Polymerase (Thermo Scientific, Lithuania) and water (DNase and 1 121 October 2013 | Volume 8 | Issue 10 | e76818 Head Lice Nits in Pre-Columbian Mummy RNase-Free) to a final reaction mixture volume of 20 ml. The PCRs were performed in a PTC-200 automated thermal cycler (MJ research, Waltham, MA, USA). The cycling conditions were 98uC for 30 sec; 40 cycles of 5 sec at 98uC, 30 sec at 56uC, 15 sec at 72uC; and a final extension time of 5 min at 72uC. All of the experiments were performed in a location free of louse DNA, under a hood with air capture and with sterilized instruments that were used only once. The negative controls remained negative. The success of the PCR amplification was then verified by migration of the PCR product on a 2% agarose gel. The NucleoFast 96 PCR Plates (Macherey-Nagel EURL, France) and BigDye Terminator version 1.1 cycle sequencing-ready reaction mix (Applied Biosystems, Foster City, CA) were then used to purify the PCR products to be sequenced directly in both directions with the same primers used in the PCR amplification. The ABI 3100 automated sequencer (Applied Biosystems) resolved the sequenced products. The program Chromas Pro software (Technelysium PTY, Australia) was used to analyze, assemble and correct the sequences. In addition to our newly obtained data, 18 samples belonging to the worldwide clade A [8], 19 samples belonging to clade B from USA, UK [11] and Honduras [7] and 28 samples belonging to clade C from Senegal [9] and Ethiopia [12] were used. The Phylogeny Reconstruction was performed from the DNA sequences using the Maximum Likelihood (ML) with 100 Bootstrap Replications within the MEGA 5 software with complete deletion, Tamura-Nei model (nucleotide) of substitution model was used automatically [13]. Ethics statement Figure 1. Picture of the Mummy. Mummy 23 from Camarones 15-D, Northern Chile � Mario A Rivera. doi:10.1371/journal.pone.0076818.g001 Mummies from Camarones were excavated in 1990 by a team of investigators under the direction of Mario A. Rivera, they have permit from Consejos Monumentos Nacionales, authorization Figure 2. Picture of the Pre Columbian nit. A pre-Columbian nit isolated from a Chilean mummy (No. 1) (h: hair; o: operculum; c: cementum) (picture taken with a ZEISS AXIO ZOOM.V16). doi:10.1371/journal.pone.0076818.g002 PLOS ONE | www.plosone.org 2 122 October 2013 | Volume 8 | Issue 10 | e76818 Head Lice Nits in Pre-Columbian Mummy Figure 3. Cytb phylogenic analysis. The phylogenic tree based on ML method of the two pre-Columbian Chilean nits based on the partial Cytb gene (270 bp). HL: head louse, BL: body louse. The numbers on the branches are bootstrap values. doi:10.1371/journal.pone.0076818.g003 phylogenetic tree, it was found that one nit belonged to the worldwide clade A (Genbank accession nuKF498963), whereas the second nit belonged to the clade B (Genbank accession nuKF498962) (figure 3). One base distinguished chilean mummy clade A head lice from other sequences found in GenBank: position 7 (G in mummy nit lice versus a gap in others) (Figure 4). There is no difference between the Chilean mummy clade B nit and other sequences present in GenBank (Figure 4). number 355, November 12th, 1987. Samples were donated by Museo Arqueologia San Miguel Azapa, Universidad de Tarapaca, Arica, Chile and permission was obtained from the said Museum to access the collections [10]. Results The DNA of the two nits (848 mm and 912 mm long, respectively) was amplified and sequenced for the Cytb gene of 270 bp. After assembling the sequences and analyzing the PLOS ONE | www.plosone.org 3 123 October 2013 | Volume 8 | Issue 10 | e76818 Head Lice Nits in Pre-Columbian Mummy Figure 4. Sequences alignment. Alignment of the clade A and clade B sequences (Chilean mummy’s nit and other sequences present in GenBank) P: Philippines, G: Germany, I: Iran, U: United State of America, T: Taiwan, C: Canada, S: Senegal, Pa: Papua New Guinea, H: Honduras. doi:10.1371/journal.pone.0076818.g004 Discussion been reported only in Africa; and A3, which is specific to American lice [14]. Clade B may have developed in North and Central America before Columbus and is now spreading throughout the world. This clade’s origin predates modern Homo sapiens by an order of magnitude (ca. 1.18 million years) [1]. In contrast, Clade C is mostly confined to Africa and Asia. The present work confirms that the origin of clade B was America before the arrival of Columbus, but it will be interesting to test other mummies from Asia, which is reputed to have peopled the Americas. We report the first identification of both the clade A and the clade B genotypes existing in sympatry in two nits isolated from human remains from pre-Columbian Chile. Lice with clade A and clade B mtDNA are not uncommon and were reported to be present on a single human head in both the USA and Honduras on several occasions [8]. Clade B was first identified in America and the United Kingdom and was later found in other European countries and Australia [7]. Until now, the origin of clade B was unknown, but according to the clade’s current distribution, it was speculated that this louse phylotype was imported into Europe by Europeans returning from America [1]. Currently, the most likely theory is that the clade A louse issued from Africa and was distributed worldwide, given the clade’s three different chromosomal signatures: A1, which is found worldwide; A2, which has PLOS ONE | www.plosone.org Author Contributions Conceived and designed the experiments: DR KM. Performed the experiments: AB RD. Analyzed the data: AB RD DR. Wrote the paper: AB RD KM MR DR. Collected samples: MR KM. 4 124 October 2013 | Volume 8 | Issue 10 | e76818 Head Lice Nits in Pre-Columbian Mummy References 8. Raoult D, Reed DL, Dittmar K, Kirchman JJ, Rolain JM, et al. (2008) Molecular identification of lice from pre-Columbian mummies. J Infect Dis 197: 535–543. 10.1086/526520 [doi]. 9. Boutellis A, Veracx A, Angelakis E, Diatta G, Mediannikov O, et al. (2012) Bartonella quintana in head lice from Senegal. Vector Borne Zoonotic Dis 12: 564–567. 10.1089/vbz.2011.0845 [doi]. 10. Rivera MA, Mumcuoglu K, Mathney RT, Matheny DG (2008) Head lice eggs, Anthropophthirus capitis, from mummies of the Chinchorro tradition, Camarones 15-D, Northern Chile. Chungara, Revista de Antropologia Chilena 40: 31–39. 11. Li W, Ortiz G, Fournier PE, Gimenez G, Reed DL, et al. (2010) Genotyping of human lice suggests multiple emergencies of body lice from local head louse populations. PLoS Negl Trop Dis 4: e641. 10.1371/journal.pntd.0000641 [doi]. 12. Angelakis E, Diatta G, Abdissa A, Trape JF, Mediannikov O, et al. (2011). Altitude-dependent Bartonella quintana genotype C in head lice, Ethiopia. Emerg Infect Dis; 17: 2357–2359. 10.3201/eid1712.110453 [doi]. 13. Tamura K, Peterson D, Peterson N, Stecher G, Nei M, et al. (2011) MEGA5. Molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Mol Biol Evol; 28: 2731–39. msr121 [pii];10.1093/molbev/msr121 [doi]. 14. Boutellis A, Veracx A, Jonatas A, Raoult D (2013) Amazonian head lice-specific genotypes are putatively pre-Columbian. Am J Trop Med Hyg 88(6):1180–4. 10.4269/ajtmh.12–0766 [doi]. 1. Reed DL, Smith VS, Hammond SL, Rogers AR, Clayton DH (2004) Genetic analysis of lice supports direct contact between modern and archaic humans. PLoS Biol 2: e340. 10.1371/journal.pbio.0020340 [doi]. 2. Rick FM, Rocha GC, Dittmar K, Coimbra CE, Reinhard K, et al. (2002) Crab louse infestation in pre-Columbian America. J Parasitol 88: 1266–1267. 10.1645/0022–3395 (2002) 088 [1266: CLIIPC]2.0.CO;2 [doi]. 3. Fornaciari G, Giuffra V, Marinozzi S, Picchi MS, Masetti M (2009) ‘Royal’ pediculosis in Renaissance Italy: lice in the mummy of the King of Naples Ferdinand II of Aragon (1467–1496). Mem Inst Oswaldo Cruz 104: 671–672. S0074–02762009000400026 [pii]. 4. Araujo A, Ferreira LF, Guidon N, Maues Da Serra FN, Reinhard KJ, et al. (2000) Ten thousand years of head lice infection. Parasitol Today 16: 269. S0169–4758 (00) 01694-X [pii]. 5. Mumcuoglu K (2008) Pediculus and Pthirus. In Paleomicrobiology – Past Human Infections. Raoult, D. & M. Drancourt (eds). Springer, Berlin, 215–222. 6. Arriaza B, Orellana NC, Barbosa HS, Menna-Barreto RF, Araujo A, et al. (2012) Severe head lice infestation in an Andean mummy of Arica, Chile. J Parasitol 98: 433–436. 10.1645/GE-2903.1 [doi]. 7. Light JE, Allen JM, Long LM, Carter TE, Barrow L, et al. (2008) Geographic distributions and origins of human head lice (Pediculus humanus capitis) based on mitochondrial data. J Parasitol 94: 1275–1281. GE-1618 [pii];10.1645/GE1618.1 [doi]. PLOS ONE | www.plosone.org 5 125 October 2013 | Volume 8 | Issue 10 | e76818 Chapitre 3: Host-Switching 127 Préambule L’association étroite hôte-parasite peut conduire à une cospeciation. Ce phénomène est bien illustré par la relation poux-hôtes. En effet, les poux sont des ectoparasites obligatoires des oiseaux et des mammifères avec qui le partenariat a commencé il y’a plus de 65 millions d’années [6,7,50]. Parfois, cette association est marquée par une série d'événements historiques tels le changement d'hôte “host-switching” ou encore la duplication de parasite [10,11]. Depuis un siècle, la relation pou – hôte entre Pediculus mjobergi et les primates du Nouveau Monde est restée une énigme du fait de la ressemblance morphologique frappante de ce dernier avec les poux humains. Pour investiguer ces observations centenaires, nous avons recueilli des poux de singes hurleurs d’Argentine et nous les avons comparés à des poux humains que nous avons recueillis dans un village d’Amazonie isolé qui a échappé à la mondialisation. Cette étude a permis de lever l'ambiguïté existante grâce aux premières analyses moléculaires et génétiques effectuées sur P. mjobergi. 129 En effet, les résultats montrent que P. mjobergi a été transmis aux singes par les premiers humains arrivés sur le continent américain il y’a des milliers d'années. Ce résultat remet en cause le paradigme de coévolution stricte entre le pou et son hôte. 130 Article VII: Host switching of Human Lice to New World Monkeys in Amazonia Soumis comme Research Reports dans Proceedings of the National Academy of Sciences 131 Host switching of human lice to new world monkeys in Amazonia 1 2 3 Rezak Dralia, Laurent Abi-Rachedb, Amina Boutellisa, Félix Djossouc, Stephen C. Barkerd and 4 Didier Raoulta 5 6 a 7 Marseille, France. 8 b 9 Mixte de Recherche 7373, Equipe ATIP, Aix-Marseille Université, 13331 Marseille, France. Aix Marseille Université, URMITE, UM63, CNRS 7278, IRD 198, Inserm 1095, 13005 Centre National de la Recherche Scientifique, Institut de Mathématiques de Marseille - Unité 10 c 11 Cedex. Guyane française. 12 d 13 of Queensland, Brisbane, Queensland, Australia. Service de maladies infectieuses et tropicales, Centre hospitalier de Cayenne, 97306 Cayenne Department of Parasitology, School of Chemistry and Molecular Biosciences, The University 14 15 Corresponding author: Didier Raoult 16 mailto:didier.raoult@gmail.com 17 18 PNAS Research Reports 19 20 21 22 23 24 Key words: Pediculus mjobergi, Clade B, Amazonian head louse, host-switching, 25 cospeciation 1 133 26 Abstract (204/250) 27 The coevolution between a host and its obligate parasite is exemplified in the sucking lice that 28 infest primates (1-4). In the context of close lice-host partnerships and cospeciation, Pediculus 29 mjobergi, the louse of New World primates, has long been puzzling because its morphology 30 resembles that of human lice (5,6). To investigate the possibility that P. mjobergi was 31 transmitted to monkeys from the first humans who set foot on the American continent 32 thousands of years ago, we obtained and compared P. mjobergi lice collected from howler 33 monkeys from Argentina to human lice gathered from a remote and isolated village in 34 Amazonia that has escaped globalization (7). Morphological examinations were first 35 conducted and verified the similarity between the monkey and human lice. The molecular 36 characterization of several nuclear and mitochondrial genetic markers in the two types of lice 37 revealed that one of the P. mjobergi specimens had a unique haplotype that clustered with the 38 haplotypes of Amazonian head lice that are prevalent in tropical regions in the Americas, a 39 natural habitat of New World monkeys. Because this phylogenetic group forms a separate 40 branch within a human clade of sequences that is of American origin, this finding indicates 41 that human lice have transferred to New World monkeys. 42 43 44 45 46 47 48 49 50 2 134 51 Significance Statement (116/120) 52 Lice are permanent obligate parasitic insects that infest birds and mammals. Because they are 53 wingless and have no intermediate hosts, lice coevolved with their hosts and acclimated to 54 their microenvironments. The transmission of lice mostly occurs through direct contact 55 between conspecific hosts. In exceptional cases, lice may migrate to another host and adapt to 56 their new ecological niches. These events are known as the host-switching phenomenon. In 57 this study, we report a case of human lice transfer to New World monkeys. This event 58 happened thousands of years ago when the first men reached the American continent. The 59 morphological examinations and genetic analyses performed on Pediculus mjobergi lice 60 collected from howler monkeys, Alouatta caraya, support these findings. 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 3 135 76 Introduction 77 A close host-parasite association can lead to cospeciation. This phenomenon is exemplified in 78 lice (Insecta: Phthiraptera), the obligate ectoparasites of birds and mammals, as their 79 partnership with their hosts has taken place for over 65 million years (1-4). 80 Humans can be infested by two types of sucking lice (Anoplura), Pediculus humanus and 81 Phthirus pubis, the crab louse (8). P. h. capitis (head louse) and P. h. humanus (body louse) 82 are ecotypes that have spread worldwide as modern humans have moved out of Africa over 83 the past 100,000 years (9). The molecular analysis of the mitochondrial (mt) genes 84 cytochrome oxidase subunit 1 (cox1) and cytochrome b (cytb) has allowed for their 85 classification into three haplogroups, which are designated A, B and C (10). Of these groups, 86 only haplogroup A is distributed worldwide and comprises both head and body lice (11,12). 87 Haplogroup B consists of head lice found in the Americas, Western Europe, Australia and 88 North Africa (13). Haplogroup C consists of head lice found in Nepal, Ethiopia and Senegal 89 (12,14,15). In addition to the inter-haplogroup diversity, human lice also demonstrate intra- 90 haplogroup diversity, which is illustrated by the many distinct A and B haplotypes (16-18). 91 The molecular analysis of lice collected from Pre-Columbian mummies showed that 92 haplogroups A and B were already present in the New World before the arrival of European 93 settlers (19,20). This finding supports an American origin for haplogroup B, followed by a 94 dispersal into the Old World by European colonists returning to Europe (13). 95 Interestingly, humans are not the only species in the Americas that harbor lice of the genus 96 Pediculus. In 1916, Ferris reported that New World monkeys harbored a sucking louse of the 97 Pediculidae family, suborder Anoplura (21). The first description of this louse was reported in 98 1910 by Mjoberg, who named it Pediculus affinis (22). Ferris suggested replacing the name 99 affinis with mjobergi (23). P. mjobergi has been found in three of the five families of 4 136 100 monkeys in the New World, the Cebidae (capuchin monkeys), the Atelidae (howler and spider 101 monkeys) and the Pitheciidae (titi monkeys) (22,24,25). 102 To investigate the relationship between P. humanus and P. mjobergi lice, we obtained and 103 compared P. mjobergi lice with lice recovered from a remote and isolated village in 104 Amazonia that has escaped globalization. 105 Results 106 P. mjobergi specimens highly resemble human lice 107 A comparison between the six adult P. mjobergi specimens from two wild howler monkeys 108 and 19 Amazonian human head lice showed that the P. mjobergi specimens are 109 morphologically similar to human lice (Figure 2). In particular, P. mjobergi were the same 110 gray color as the contemporary head lice recovered in the USA and were not the darker color 111 of the Amazonian head lice (Figure 2). 112 P. mjobergi mtDNA sequences belong to the mtDNA clades of human lice 113 To determine if the morphological similarities between the P. mjobergi specimens and human 114 lice are the result of convergent evolution or a recent common ancestor, we evaluated four 115 mtDNA markers (cytb, cox1, 16S rRNA, and nad2). Although each marker was targeted for 116 amplification from each of the six P. mjobergi specimens, only one marker was amplified 117 from all six individuals (cytb), and the remaining three markers (cox1, 16S rRNA, and nad2) 118 were only amplified from P. mjobergi individual #4 (Figure 3). Because the positive and 119 negative PCR amplification controls worked well in all of the amplification experiments, this 120 finding suggests that for P. mjobergi individuals #1-3 and #5-6, either the DNA extracted was 121 not of sufficient quality or the targeted genes had a sequence at the primer sites that was too 122 divergent. 123 The targets that could be amplified by PCR were sequenced, and the sequences generated 124 were aligned with the publicly available sequences. The P. mjobergi sequences obtained were 5 137 125 highly similar to the sequences obtained from human lice. To investigate their precise 126 relationship, we performed phylogenetic analyses. Maximum-likelihood (ML) and Neighbor- 127 Joining (NJ) phylogenetic analyses were performed for each of the four mtDNA genes and 128 showed that, in all four analyses, the human and P. mjobergi sequences split into three well- 129 supported haplogroups that corresponded to haplogroups A, B and C (Figure 4). In all four 130 analyses, the sequences of the monkey louse P. mjobergi #4 clustered with the Amazonian 131 head lice in haplogroup B. Similarly, the analysis of the cytb gene revealed that the remaining 132 monkey lice (P. mjobergi #1-3 and #5-6) have the widespread haplotype A5 of haplogroup A 133 (Figure 4A). 134 To investigate the geographical distribution of the haplotypes more precisely, we assembled a 135 dataset of 707 cytb sequences of body and head lice (424 from GenBank and 283 from our 136 laboratory). These 707 sequences span 36 worldwide geographic locations on five continents 137 and represent 32 distinct haplotypes, 21 from haplogroup A (66%), five from haplogroup B 138 (16%) and six from haplogroup C (SI Appendix). While P. mjobergi #1-3 and #5-6 have 139 haplotype A5, which is common worldwide (80% of locations and 49% of the 707 analyzed 140 human lice), the P. mjobergi #4 haplotype is closely related to haplotype B54 (Figure 5A), 141 which is unique to Amazonian head lice; these two haplotypes only differ in five nucleotides 142 that result in only a single amino acid difference (Lys129Ile) (SI Appendix). 143 We performed a similar analysis for the cox1 gene. Even though the sequences included in 144 this analysis were primarily collected from across the America (16), we were also able to 145 include 79 sequences from head and body lice from other parts of the world as well as the 33 146 lice sequences obtained in this study (SI Appendix). The 562 sequences collected represent 37 147 haplotypes, fifteen from haplogroup A, fifteen from haplogroup B and two from haplogroup 148 C. As for cytb, P. mjobergi #4 has a unique haplotype that is part of a subgroup of haplogroup 6 138 149 B that contains haplotype B18 from Argentina and Mexico and haplotypes B29-B30 from 150 Amazonia (Figure 5B). 151 This analysis result indicates that the P. mjobergi mtDNA sequences belong to the mtDNA 152 clades of human lice. In particular, specimen P. mjobergi #4 had, for all four markers, 153 sequences belonging to the B haplogroup, a haplogroup that most likely originated in the 154 Americas. Therefore, in addition to the morphological similarities, P. mjobergi lice and 155 human lice also share highly related mtDNA genomes, which suggests that their 156 morphological similarities are not the result of convergent evolution but are the result of their 157 close genetic relationship. 158 P. mjobergi nuclear sequences are related to the sequences of human lice 159 To further investigate whether P. mjobergi and human lice are closely related, we extended 160 our analysis to include nuclear markers, three genes and four intergenic spacers (Figure 3). 161 All three nuclear genes were amplified from P. mjobergi #4 as well as one gene from P. 162 mjobergi individual #3 (18S rRNA), but no PCR product was obtained for specimens #1-2 163 and #5-6 (Figure 3). A comparison of the sequences obtained in these amplifications with 164 publicly available human lice sequences showed that the P. mjobergi sequences are highly 165 related to the human lice sequences but are unique sequences in all cases. In particular, the 166 18S rRNA sequences from P. mjobergi individual #3 and P. mjobergi #4 are both unique (SI 167 Appendix). 168 The intergenic spacers PM1 and PM2 could be amplified from P. mjobergi #4, and PM1 was 169 also amplified from P. mjobergi #3 (Figure 3). Both spacers were also amplified from the 19 170 Amazonian head lice included in this study (see Methods). For PM1, 15 of the 19 Amazonian 171 head lice shared genotype 13 (G13) with human lice from Africa and Europe belonging to a 172 group that also includes P. mjobergi #3 (Figure 6A). The P. mjobergi #4 PM1 sequence, 173 however, belongs to genotype 21 (G21), which was previously characterized in Mexico. The 7 139 174 remaining Amazonian head lice belong to either genotype 36 (G36), which was already 175 characterized in Amazonia, or a new genotype that is highly related to G36 (Figure 6A). For 176 the PM2 marker, P. mjobergi #4 and Amazonian head lice share genotype 47 (G47) with 177 human lice from Africa, Oceania and America (Figure 6B). 178 This analysis of nuclear markers supports the results from the mtDNA analysis and shows that 179 the P. mjobergi specimens are closely related to human lice. 180 Discussion 181 In this study, we report for the first time molecular data for Pediculus mjobergi, which is 182 known as the louse of New World monkeys. The six individual lice analyzed were 183 morphologically similar to Pediculus humanus, the human lice (Figure 2). This observation 184 supports two previous descriptions reported in 1938 and 1983 (5,6). 185 The mtDNA analysis revealed that the New World monkey lice analyzed in this study have 186 cytb haplogroup A and B haplotypes, whereas the Amazonian head lice only have haplogroup 187 B haplotypes. Interestingly, while five P. mjobergi had a haplogroup A haplotype (A5) that is 188 prevalent (49% of analyzed human lice) and well distributed (80% of locations), P. mjobergi 189 #4 had a novel haplogroup B haplotype. This novel haplotype belongs in a group with 190 Amazonian head lice (Figure 5) that are prevalent in tropical areas in the Americas (Mexico, 191 Amazonia and northeast Argentina), a natural habitat of New World monkeys. 192 Because of the genetic and geographic proximity of the lice evaluated in this study, this 193 finding suggests that an exchange of genetic material has taken place between human lice and 194 New World monkey lice during their casual encounters. Consistent with this model, contact 195 between monkeys and humans has never been interrupted in South America. For example, 196 when monkeys are not hunted for their meat, they can become pets (26). 197 In blood sucking insects, including mosquitoes, host preference demonstrates a high degree of 198 flexibility when the favorite host species becomes scarce or is not accessible (27). Under these 8 140 199 conditions, physiological factors (hunger) and the physical abundance of available new hosts 200 may contribute to host switching (27). In this study, we show that this type of host switching 201 has occurred with human lice transmitted to monkeys. Moreover, the evidence suggesting that 202 two different mitochondrial genotypes (Clade A and Clade B) are prevalent, leads us to 203 conclude that the P. humanus-P. mjobergi shift is not a unique event because it appears to 204 have occurred at least twice. Among closely related mammals, louse-host cospeciation 205 primarily results from allopatry (28,29). Conversely, the sympatric life of related hosts can 206 result in an exchange, and potentially a recombination, of their respective lice, which would 207 overrule the strict louse-host coevolution paradigm. 208 Materials and Methods 209 Lice samples. For P. mjobergi, six adult specimens were collected from two wild howler 210 monkeys, Alouatta caraya, located in northeast Argentina. The first four lice were collected 211 from monkey #B2188 from the National Park Iguaza, Province of Misiones. The other two 212 lice were found on monkey B1395 from the Province of Corientes (Figure 1). 213 For the human lice in the Americas, 19 Amazonian human head lice were included in this 214 study. We recovered these specimens in 2013 from members of the Wayapi community (7) 215 living in “Trois-Sauts”, a remote and isolated village on the Oyapock River along the border 216 between French Guyana and Brazil (Figure 1). 217 Human head and body lice collected in France were included as positive controls. 218 Lice were photographed on their dorsal and ventral sides using a fixed camera (Olympus 219 DP71, Rungis, France). 220 DNA samples. Genomic DNA was extracted using the QIAamp DNA tissue extraction kit 221 (Qiagen, Hilden, Germany) in an EZ1 apparatus following the manufacturer's instructions. 222 DNA from each louse was eluted in 100 µl of TE buffer and stored at -20 °C. 9 141 223 PCR amplifications. Seven genes, three nuclear genes [18S rRNA, glycerol-3-phosphate 224 dehydrogenase (GPD) and RNA polymerase II largest subunit (RPII)] and four mtDNA 225 [(cytb), cytochrome oxidase subunit 1 (cox1), 16S ribosomal RNA, and NADH 226 dehydrogenase subunit 2 (nad2)] were investigated. We also targeted intergenic regions using 227 two highly polymorphic microsatellites (PM1 and PM2) as previously described (30). 228 All primers used for these experiments are described in the SI Appendix. 229 PCR amplifications were conducted in a Peltier PTC-200 model thermal cycler (MJ Research 230 Inc., Watertown, Mass. USA). PCR reactions were prepared on ice and contained 3 μl of 231 DNA template, 4 μl of Phusion HF Buffer, 250 μM of each nucleotide, 0.5 μM of each 232 primer, 0.2 μl of high fidelity Phusion DNA Polymerase (Finnzymes, Thermo Scientific, 233 Vantaa, Finland) and water to a final reaction mixture volume of 20 μl. The cycling 234 conditions were 98°C for 30 sec; 35 cycles of 5 sec at 98°C, 30 sec at Tm (SI Appendix), 15 235 sec at 72°C; and a final extension time of 5 min at 72°C. PCR positive and negative controls 236 were included in each assay. The success of PCR amplification was then verified by 237 electrophoresis of the PCR product on a 1.5% agarose gels. 238 Sequencing. NucleoFast 96 PCR Plates (Macherey-Nagel EURL, France) were used to purify 239 the PCR products before sequencing. The purified PCR products were then sequenced in both 240 directions (with the PCR primers) using a BigDye Terminator version 1.1 cycle sequencing- 241 ready reaction mix (Applied Biosystems, Foster City, CA) and an ABI 3100 automated 242 sequencer (Applied Biosystems). The program Chromas Pro software (Technelysium PTY, 243 Australia) was used to analyze, assemble and correct the sequences. 244 The sequences obtained in this study and those representing the haplotypes determined from 245 the set of used sequences have been deposited in GenBank (KM579408 - KM579584). 246 Sequence analysis. For each of the target genes, the nucleotide sequences obtained in this 247 study were aligned with the sequences available on public databases (GenBank) using 10 142 248 CLUSTALX 2.0.11 (31). MEGA 6 was used for phylogenetic analyses and tree 249 reconstruction (32). NJ phylogenetic analysis was performed using the Maximum Composite 250 Likelihood method with 200 replicates. ML analyses were performed using the Jukes-Cantor 251 model with 200 replicates. 252 To determine the phylogeographic relationships among the lice, median-joining networks 253 were assembled for the lice haplotypes of two mitochondrial markers, cytb and cox 1, using 254 the method of Bandelt with the program Network version 4.6.1.1 (33). The sequence between 255 nucleotide positions 370-642 of cytb and 748-1026 of cox1 was determined for all the 256 specimens. Partial gene sequences were aligned with the sequences available in GenBank. 257 The percent similarities were determined using MEGA6 (32). 258 Ancestral sequences were reconstructed for each node of the cytb phylogenetic tree using the 259 marginal reconstruction approach with BASEML of the PAML4 software package (34). 260 261 262 263 264 265 266 267 268 269 270 271 272 11 143 273 Reference List 274 275 1. Barker,S.C. (1991) Evolution of host-parasite associations among species of lice and 276 rock-wallabies: coevolution? (J. F. A. Sprent Prize lecture, August 1990). Int. J. 277 Parasitol., 21, 497-501. 278 279 280 2. Barker,S.C. (1994) Phylogeny and classification, origins, and evolution of host associations of lice. Int. J. Parasitol., 24, 1285-1291. 3. Hafner,M.S. and Page,R.D. (1995) Molecular phylogenies and host-parasite 281 cospeciation: gophers and lice as a model system. Philos. Trans. R Soc Lond B Biol 282 Sci., 349, 77-83. 283 284 285 286 4. Smith,V.S., Ford,T., Johnson,K.P., Johnson,P.C., Yoshizawa,K. and Light,J.E. (2011) Multiple lineages of lice pass through the K-Pg boundary. Biol Lett., 7, 782-785. 5. Ewing,H.E. (1938) The Sucking Lice of American Monkeys. The Journal of Parasitology., 24, 13-33. 287 6. Maunder,J.W. (1983) The Appreciation of lice. Proc. R. Inst. Great Britain., 55, 1-31. 288 7. Woerther,P.L., Angebault,C., Lescat,M., Ruppe,E., Skurnik,D., Mniai,A.E., 289 Clermont,O., Jacquier,H., Costa,A.D., Renard,M. et al. (2010) Emergence and 290 dissemination of extended-spectrum beta-lactamase-producing Escherichia coli in the 291 community: lessons from the study of a remote and controlled population. J. Infect. 292 Dis., 202, 515-523. 293 8. Durden,L.A. (2001) Lice (Phthiraptera). In Samuel,W.M., Pybus,M.J. and Kocan,A.A. 294 (eds.), Parasitic diseases of wild mammals. Ames: Iowa State University Press, pp. 3- 295 17. 296 9. Ascunce,M.S., Toups,M.A., Kassu,G., Fane,J., Scholl,K. and Reed,D.L. (2013) 297 Nuclear genetic diversity in human lice (Pediculus humanus) reveals continental 298 differences and high inbreeding among worldwide populations. PLoS. One., 8, 299 e57619. 12 144 300 10. Reed,D.L., Smith,V.S., Hammond,S.L., Rogers,A.R. and Clayton,D.H. (2004) Genetic 301 analysis of lice supports direct contact between modern and archaic humans. PLoS. 302 Biol, 2, e340. 303 11. Reed,D.L., Light,J.E., Allen,J.M. and Kirchman,J.J. (2007) Pair of lice lost or 304 parasites regained: the evolutionary history of anthropoid primate lice. BMC. Biol., 5, 305 7. 306 12. Xiong, H., Campelo, D., Pollack, R. J., Raoult, D., Shao, R., Alem, M., Ali, J., Bilcha, 307 K., Barker, S. C. (2014). Second�generation sequencing of entire mitochondrial 308 coding�regions (� 15.4 kb) holds promise for study of the phylogeny and taxonomy of 309 human body lice and head lice. Medical and veterinary entomology, 28(S1), 40-50. 310 311 312 313 13. Boutellis,A., Abi-Rached,L. and Raoult,D. (2014) The origin and distribution of human lice in the world. Infect. Genet. Evol., 23, 209-217. 14. Light,J.E., Toups,M.A. and Reed,D.L. (2008) What's in a name: the taxonomic status of human head and body lice. Mol. Phylogenet. Evol., 47, 1203-1216. 314 15. Veracx,A., Boutellis,A. and Raoult,D. (2013) Genetic recombination events between 315 sympatric Clade A and Clade C lice in Africa. J. Med. Entomol., 50, 1165-1168. 316 16. Ascunce,M.S., Fane,J., Kassu,G., Toloza,A.C., Picollo,M.I., Gonzalez-Oliver,A. and 317 Reed,D.L. (2013) Mitochondrial diversity in human head louse populations across the 318 Americas. Am. J. Phys. Anthropol., 152, 118-129. 319 17. Leo,N.P., Campbell,N.J., Yang,X., Mumcuoglu,K. and Barker,S.C. (2002) Evidence 320 from mitochondrial DNA that head lice and body lice of humans (Phthiraptera: 321 Pediculidae) are conspecific. J. Med. Entomol., 39, 662-666. 322 18. Light,J.E., Allen,J.M., Long,L.M., Carter,T.E., Barrow,L., Suren,G., Raoult,D. and 323 Reed,D.L. (2008) Geographic distributions and origins of human head lice (Pediculus 324 humanus capitis) based on mitochondrial data. J. Parasitol., 94, 1275-1281. 325 19. Boutellis,A., Drali,R., Rivera,M.A., Mumcuoglu,K.Y. and Raoult,D. (2013) Evidence 326 of sympatry of clade a and clade B head lice in a pre-Columbian Chilean mummy 327 from Camarones. PLoS. One., 8, e76818. 13 145 328 20. Raoult,D., Reed,D.L., Dittmar,K., Kirchman,J.J., Rolain,J.M., Guillen,S. and 329 Light,J.E. (2008) Molecular identification of lice from pre-Columbian mummies. J. 330 Infect. Dis., 197, 535-543. 331 332 333 334 21. Ferris,G.F. (1916) A catalogue and lost list of the Anoplura. The Academy, San Francisco. 22. Durden,L.A. and Musser,G.G. (1994) The Mammalian Hosts of The Sucking Lice (Anoploura) of the World: A Host-Parasite List. Bull. Soc. Vector Ecol., 19, 130-168. 335 23. Ferris,G.F. (1951) The sucking lice. Mem. Pacif. Coast Entomol. Soc.. 336 24. Finstermeier,K., Zinner,D., Brameier,M., Meyer,M., Kreuz,E., Hofreiter,M. and 337 338 339 340 341 342 343 344 345 346 347 348 Roos,C. (2013) A mitogenomic phylogeny of living primates. PLoS. One., 8, e69504. 25. Price,M.A. and Graham,O.H. (1997) Chewing and sucking lice as parasites of mammals and birds. Technical Bulletin., 1849, 1-309. 26. Horwich,R.H. (1998) Effective solutions for howler conservation. International Journal of Primatology, 19, 579-598. 27. Takken,W. and Verhulst,N.O. (2013) Host preferences of blood-feeding mosquitoes. Annu. Rev. Entomol., 58, 433-453. 28. Mayr,E. (1944) Systematics, and the Origin of Species. Columbia University Press., New York, NY. 29. Mayr,E. (1963) Animal Species, and Evolution. Harvard university Press., Cambridge, MA. 30. Li,W., Ortiz,G., Fournier,P.E., Gimenez,G., Reed,D.L., Pittendrigh,B. and Raoult,D. 349 (2010) Genotyping of human lice suggests multiple emergencies of body lice from 350 local head louse populations. PLoS. Negl. Trop. Dis., 4, e641. 351 31. Larkin,M.A., Blackshields,G., Brown,N.P., Chenna,R., McGettigan,P.A., 352 McWilliam,H., Valentin,F., Wallace,I.M., Wilm,A., Lopez,R. et al. (2007) Clustal W 353 and Clustal X version 2.0. Bioinformatics., 23, 2947-2948. 14 146 354 32. Tamura,K., Stecher,G., Peterson,D., Filipski,A. and Kumar,S. (2013) MEGA6: 355 Molecular Evolutionary Genetics Analysis version 6.0. Mol. Biol. Evol., 30, 2725- 356 2729. 357 358 359 360 33. Bandelt,H.J., Forster,P. and Rohl,A. (1999) Median-joining networks for inferring intraspecific phylogenies. Mol. Biol. Evol., 16, 37-48. 34. Yang,Z. (2007) PAML 4: phylogenetic analysis by maximum likelihood. Molecular biology and evolution., 24, 1586-1591. 361 362 363 364 365 366 367 368 369 370 15 147 148 Figure 1: Geographical localization of lice sampling New World monkey lice: Argentina Human head lice: french Guyana Province of Corientes, Argentina Province of Misiones, Argentina National Park Iguaza, Trois-Sauts village, French Guyana 149 Male; Amazonia. female (1, 2) human head lice from USA; (3, 4) P. mjobergi from Argentina; (5, 6) human head lice from Figure 2: Morphological comparisons show that P. mjobergi lice highly resemble human lice 150 Lice # (1-4) were collected from monkey [B2188]. Lice # (5 and 6) were collected from monkey [B1395]. Figure 3: PCR results of genetic markers in monkey lice P. mjobergi. Not amplified Amplified 151 Haplogroup C Haplogroup B Haplogroup C Haplogroup B Haplogroup A Haplogroup A (D) (B) Haplogroup C Haplogroup B Haplogroup A Haplogroup C Haplogroup B Haplogroup A includes sequences of P.mjobergi #1-3 and #5-6. Head & body lice Head louse Body louse Bootstrap support values (greater than 80) are located above and below the nodes, respectively. Mt clade memberships are indicated to the right of each tree. Maximum-likelihood (ML) and neighbor-joining phylograms resulting from analysis of mt genes: (A) cytb, (B) cox1, (C) 16S rRNA and (D) Nad2. Figure 4. P. mjobergi sequences highly related to sequences obtained from human lice. (C) (A) 152 [A] P. mjobergi Oceania America Europe Africa Asia Figure 5A. Statistical parsimony network for the cytb gene haplotypes found in haplogroup A, haplogroup B and haplogroup C. Each connecting branch represents a single mutational step. Sizes are scaled and represent relative frequencies. [C] [B] 153 [C] [B] Africa Asia Europe America Oceania P. mjobergi Figure 5B. Statistical parsimony network for the cox1 gene haplotypes found in haplogroup A, haplogroup B and haplogroup C. Each connecting branch represents a single mutational step. Sizes are scaled and represent relative frequencies. [A] 154 P. mjobergi #3 KM579409 G13 Amazonia Amazonia France, Portugal Senegal EU928786 G6 Burundi EU928790 G10 Burundi EU928785 G5 Burundi, Ethiopia EU928793 G13 KM579426 G13 Amazonia KM579427 G13 Amazonia KM579425 G13 Amazonia KM579423 G13 Amazonia KM579422 G13 Amazonia KM579421 G13 Amazonia KM579419 G13 Amazonia KM579418 G13 KM579417 G13 Amazonia KM579416 G13 Amazonia KM579415 G13 KM579414 G13 Amazonia KM579412 G13 Amazonia Amazonia KM579411 G13 Amazonia JX178753 G36 EU928802 G22 Burundi 0.005 (B) EU928831 G28 Russia EU928841 G38 France EU928843 G40 Portugal EU928830 G27 Russia EU928847 G44 Mexico EU928862 G59 France KM579435 G39 Orlando strain EU928805 G2 France EU928806 G3 Russia EU928809 G6 Russia EU928810 G7 France KM579434 G6 France EU928851 G48 Russia EU928856 G53 Russia EU928857 G54 Russia EU928833 G30 Russia EU928834 G31 Russia EU928835 G32 Russia KM579428 G33 Nepal EU928837 G34 France EU928817 G14 Burundi KM579443 P. mjobergi #4 KM579444 - KM579454 G47 Amazonia KM579442 G47 Amazonia KM579441 G47 Australia KM579436 - KM579439 G47 Algeria KM579433 G47 Australia EU928861 G58 Mexico EU928853 G50 France KM579430 G61 Nepal EU928846 G43 Russia EU928840 G37 Mexico EU928839 G36 Russia EU928855 G52 Mexico EU928854 G51 France EU928852 G49 France KM579429 G60 Nepal EU928821 G18 Rwanda EU928829 G26 Rwanda EU928828 G25 Burundi EU928811 G8 Rwanda KM579431 G62 Ethiopia KM579440 G64 Ethiopia EU928826 G23 Rwanda EU928823 G20 Rwanda EU928848 G45 Russia EU928825 G22 Burundi EU928824 G21 Rwanda EU928822 G19 Burundi KM579432 G63 Ethiopia EU928814 G11 Rwanda EU928813 G10 Burundi EU928820 G17 Burundi EU928819 G16 Burundi EU928860 G57 France EU928859 G56 Rwanda Africa Asia Europe America Oceania P. mjobergi Figure 6. Phylogenetic organization of human lice and P. mjobergi based on two nuclear intergenic spacers, PM1, PM2, using the maximum likelihood method. EU928789 G9 Burundi EU928782 G2 Burundi JQ652455 G35 Burundi Amazonia EU928791 G11 Burundi Amazonia KM579410 G36 EU928792 G12 Burundi EU928799 G19 Russia Amazonia KM579413 KM579420 G36 EU928796 G16 Russia EU928795 G15 Russia EU928781 G1 Burundi EU928787 G7 Burundi 0.002 EU928803 G23 Russia P. mjobergi #4 EU928798 G18 France Russia Mexico Ethiopia, Rwanda KM579408 G21 EU928794 G14 Russia EU928801 G21 Mexico EU928783 G3 Burundi, Rwanda (A) 155 G C A T A G T A A T G A - T A G A C A - A T A A T T C G C A T A G T A A T G A - T A G A C A - A T A A T T C G G G G G T T T T T A A A A A A A A A A T T T T T G G G G G A A A A A - C C C C C A A A A A G G G G G G G G G G G G G G G G G G A A A A A T T T T T T T T T T T T T C C C C C C C C C C C C C C C C C C A A A A A A A A A A A A A A A A A A - - A A A A A A A A A A A A A A A A A A T T T T T C C C C C C C C C C C C C BL: body louse; HL: head louse (A) 18S rRNA gene; (B) RPII gene; (C) GPD gene Supplementary file 1: Alignment of variable nucleotide positions A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A G G G G G G G G G G G G G G G G G G T T T T T T T T T T T T T T T T T T C C C C C C C C C C C C C C C C C C C C C C C AY236413 Burundi HL AY236415 Rwanda HL T T T T T G G G G G G G G G G G G G T T T T T G C A C G G T A A T G A - C A G A C A - A T A A G T C A A A A A C C C C C C C C C C C C C G G G G G AF139482 Zimbabwe BL C C C C C A A A A A A A A A A A A A A A A A A G G G G G G G G G G G G G G G G G G C C C C C FJ267399 Burundi BL AY236412 Rwanda BL AF139486 Burundi BL KM579472 Ethiopia BL KM579473 Ethiopia BL C C C C C C C C C C C C C C C C C C G C A - - G T T T C G A C G A G T C A - A C A A G T C G C A - - G T T T C G A C G A G T C A - A C A A G T C A A A A A A A A A A A A A G G G G G G T A - - A T A T T C G T A C G T T C - G C C A G T C A A A A A A A A A A A A A - KM579479 Nepal HL KM579480 USA BL T T T T T T T T T T T T T C C C C C FJ267395 USA HL G G G G G G G G G G G G G T T T T T G C A - - G T A A C G A C G A G T C A - A C C A G T C G C A - - G T A A C G A C G A G T C A - A C C A G T C - T T T T T AY589939 Nepal HL AF139481 Peru BL - G G G G G A C A - - G T A A C G A C G A G T C A - A C A A G T C A A A A A A A A A A A A A - AY236411 Algeria BL C C C C C C C C C C C C C - G G G G G G G G G G G G G - KM579469 Nepal BL AF139479 Russia BL AF139480 USA BL AY236416 Netherlands BL KM579470 Nepal BL AY589938 Nepal BL AY589941 Iran HL FJ267398 Canada BL AY589940 Iran HL AY589942 Nepal BL AF139488 Tunisia BL AF139478 France BL KM579471 France BL - G T A - - G T A A C G A - - - G T T C - G C C A G T C - EF570919 Indonesia HL - KM579468 Australia HL KM579474 Amazonia HL AY077775 Australia HL AY236414 HL Portugal AY236417 HL China - G G G G G KM579475 Algeria HL KM579476 Algeria HL KM579477 Algeria HL A A A A A G T A - - A A A - - - - - - - G T T C - G C C A G T C G T A - - A A A - - - - - - - G T T C - G C C A G T C G T A - - A A A - - - - - - - G T T C - G C C A G T C AY236418 Thailand HL A A A A A G T A - - A A A - - - - - - - G T T C A G C C A G T C FJ267396 USA HL FJ267397 HL UT USA A A A A A G T A - - A A A - - - - - - - A T T C - G C C A G T C G T A - - A A A - - - - - - - A T T C - G C C A G T C FJ267394 USA HL - G T A - - A A A - - - - - - - G T T C - G C C A G T C AY236410 France HL - G C T - - A A A - - - - - - - G T T C G A C C A G T C AF139484 Russia HL T T T T T G C A - - A A A - - - - - - - G T C A - A C A A G T C KM579467 P. mjoberg i #4 T T T T T G T A - - A A A - - - - - - - G T T C - G C C G G C C G T A - - A A A - - - - - - - G T T C - G C C A G T A KM579466 P. mjobergi #3 (A) A A A A A A A A A A A A A A A A A A A A A A A AY316903 Papua New Guinea HL FJ267456 USA HL FJ267457 USA HL FJ267459 Canada BL AY316879 Panama HL AY316880 Panama HL AY316883 Ethiopia HL AY316885 Ethiopia HL AY316898 Ethiopia HL AY316884 Ethiopia HL AY316892 Ethiopia HL FJ267458 USA HL AY316889 Nepal HL AY316894 Ethiopia HL AY316897 Ethiopia HL AY316893 Ethiopia HL AY316895 Ethiopia HL AY316896 Ethiopia HL AY316899 Nepal HL AY316902 Papua New Guinea HL AY316904 Papua New Guinea HL AY316908 Germany HL AY316910 Germany HL A AY316900 Nepal HL A A AY316891 Ethiopia HL FJ267455 USA HL A AY316890 Nepal HL A A AY316888 Germany HL AY316911 UK HL A AY316887 Germany HL A A AY316886 UK HL AY316909 Germany HL A AY316882 Germany HL A A AY316881 Germany HL AY316907 Germany HL A AY316878 Ecuador HL A A AY316877 Laos HL AY316906 Ecuador HL A AY316876 UK HL A T KM579481 USA BL AY316905 Ecuador HL T KM579491 Ethiopia HL A T KM579482 France BL AY316901 Papua New Guinea T T KM579490 Amazonia HL KM579492 P. mjobergi #4 (B) A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A A G G G G G T T T T T T T C T T T T T T C C C T T T T T T T T T T T T T T T T T T T T T T T T T T T T T C C C C C C T C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C C T T T T T C C C T T T C C C T T T T T T T T T T T T T T T T T T T T T T T T T T T C T T T T A A A A A A A A A A A A A A A A A G G A A A A A A A A A A A A A A A A A A A A A A A A A A G T T C C T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T G G G G G A G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G A G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G A G G G T T C C T T T T T T T C C C T T T C C C C C C C C C C C C C C C C C C C C C C C C T C C C C G G G G G C G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G G C C T T T C T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T T C T T T T T T T T T T C T C C C T T T C C C T T T T T T T T T T T T T T T T T T T T T T T T T T T T T 156 A T T T T A T - T T T C A A A A T A C T A G A C T G G G A A A T T G C - G - C G A A T T T T A T - T T T T A A A A T A C T A G A C T G G T A A A T T G C - G - C G A A - - - T A T T T T T T A A A A A A C C A T G A A A C T G A A T T A T - A T C G A A - - - T A T T T T T T A A A A A A C C A T G A A A C T G A A T T A T - A T C G A G - - - A A T - T T T T A A A A A A C C A T A A A A C T A A A T T A C - A T C G A G - - - A A T - T T T T A A A A A A C C A T A A A A C T A A A T T A C - A T C G A G T A T G T G A A A A T A A T A A G A C A T A A A A C T A A A C T A T T A A C G A G G A T G T G C A A A T G A A A T A C C A T A C A A C T A G T C T A T T A A T T G KM579582 Nepal BL KM579583 Nepal BL KM579575 Algeria HL KM579576 Algeria HL KM579580 Nepal HL KM579578 Ethiopia HL KM579577 Amazonia HL KM579579 Ethiopia BL BL: body louse; HL: head louse (A) 18S rRNA gene; (B) RPII gene; (C) GPD gene Supplementary file 1: Alignment of variable nucleotide positions A T T T T A T T T T T T A A A A A A A C A T G A A A C T G A A T T A T A A - T C G KM579584 P. mjobergi 4# (C) 157 B Supplementary file 2. A . Chronogram for the lice haplotypes resulting from analysis cytb gene. B. Nucleotide positions shared between the different haplotypes Body louse Head louse Head & body lice A Haplogroups A & C Haplogroups B & C Haplogroup B Haplogroup A * Non synonymous nucleotide position Haplogroups A & B Haplogroup C Haplotype 39 Haplotype 54 Burundi Haplotype France Yemen Philippines Mongolia Nepal Laos Rwanda Algeria 158 3 28 1 19 20 8 2 7 1 1 4 1 8 1 16 2 20 8 17 7 1 51 26 18 85 7 18 13 11 6 2 10 1 6 83 14 31 1 1 44 9 10 4 32 57 16 18 50 10 7 2 1 8 10 1 11 84 5 Taiwan 1 Hungary 1 Germany 9 4 10 6 United Kingdom 1 Australia 1 New Zeeland 9 Amazonia 5 Papua-New-Guinea 20 Canada 1 Senegal 6 China 6 Japan 10 Chille 4 1 1 3 1 1 9 34 Ecuador 2 Brazil 38 10 17 1 10 Mexico 1 Portugal 1 44 4 10 4 Honduras 1 1 45 5 27 Panama 1 Iran 2 1 Peru 24 Ethiopia 1 USA 18 21 7 17 13 3 Kenya 2 Madagascar 1 Russia A1 A2 A3 A4 A5 A6 A7 A8 A9 A10 A11 A12 A13 A14 A16 A17 A18 A19 A45 A52 A53 B32 B33 B34 B36 B54 C39 C40 C41 C42 C43 C44 1 1 1 4 346 3 1 3 1 20 10 16 11 1 18 37 2 1 1 20 8 1 21 2 76 19 5 1 17 7 1 51 707 KM579538 KM579539 KM579540 KM579541 KM579542 KM579543 KM579544 KM579545 KM579546 KM579547 KM579548 KM579549 KM579550 KM579551 KM579552 KM579553 KM579554 KM579555 KM579566 KM579567 KM579568 KM579556 KM579557 KM579558 KM579559 KM579569 KM579560 KM579561 KM579562 KM579563 KM579564 KM579565 Acc. No. Supplementary file 3: cytb gene haplotype frequency of human lice per location worldwide Total Mongolia Ethiopia Burundi Algeria Haplotype 159 3 1 Nepal 4 14 2 1 1 2 30 1 24 3 1 9 235 10 1 2 1 1 25 4 2 17 29 15 1 1 1 1 1 3 4 1 42 17 1 2 2 10 92 2 1 2 5 4 2 177 14 2 Panama 2 2 4 Yemen 3 Philippines 1 1 France 1 Norway 3 Australia 7 United Kingdom 2 Cook Islands 1 Argentina 3 Papua-New-Guinea 2 Peru 2 Colombia 2 Ecuador 18 9 195 2 6 2 2 1 Amazonia 1 Honduras 5 2 USA 2 Mexico 1 18 KM579493 239 KM579500 113 KM579501 2 KM579502 2 KM579503 1 KM579504 2 KM579505 2 KM579506 3 KM579507 7 KM579494 2 KM579495 1 KM579496 1 KM579497 1 KM579498 1 KM579499 75 KM579508 42 KM579509 12 KM579510 3 KM579511 4 KM579512 1 KM579513 2 KM579514 1 KM579515 1 KM579516 1 KM579517 2 KM579518 1 KM579519 1 KM579520 15 KM579521 1 KM579522 2 KM579523 2 KM579524 7 561 7 Canada A1 A2 A3 A4 A5 A6 A7 A8 A9 A10 A11 A12 A13 A14 A15 B16 B17 B18 B19 B20 B21 B22 B23 B24 B25 B26 B27 B28 B29 B30 C31 C32 Acc. No. Supplementary file 4: cox1 gene haplotype frequency of human lice per location worldwide Total Africa Asia Europe America Oceania Chapitre 4 : Détection et monitoring de la résistance moléculaire des poux de corps à la perméthrine 161 Préambule La prévalence des poux de corps chez les personnes fréquentant les foyers pour sans-abri à Marseille atteint 22% [51]. Il était donc indispensable de mettre en œuvre des stratégies de lutte contre le pou de corps vecteur de trois maladies ayant tué des millions de personnes par le passé [30]. Comme on l’avait constaté, les poux de corps sont extrêmement contagieux et peuvent se propager par contact direct entre les personnes ou par le biais de la literie dans les foyers. Les mesures thérapeutiques classiques telles le changement fréquent de vêtements ou le lavage des couvertures à 50 °C restent difficiles à appliquer auprès de ces personnes qui vivent dans des conditions précaires. L'ivermectine par voie orale réduit le prurit et la prévalence des infestations par les poux de corps chez ces patients mais l'effet reste transitoire [52,53]. Ces résultats montrent que l'éradication complète de ces ectoparasites chez les personnes sans-abri demeure un défi permanent. Un essai clinique ayant pour objectif l’éradication des poux de corps par le port de sous-vêtements imprégnés de perméthrine dans les populations défavorisées de Marseille avait été mis en place. Lors de cette étude, il était important de vérifier la sélection possible de la 163 résistance moléculaire à la perméthrine par évaluation de la prévalence des mutations conférant cette résistance avant, pendant et après l’étude. Pour cela, il fallait développer une méthode rapide, fiable et permettant la réalisation de plusieurs centaines de tests avant le début de l’essai clinique. Nous avions opté pour une méthode de génotypage par PCR en temps réel avec sondes d’hybridation qui s’était révélée sensible et spécifique [54]. Les résultats de l’essai clinique avaient suggéré d’éviter l’usage de la perméthrine en raison de l’augmentation de la résistance kdr chez les populations de poux de corps ciblées [55]. 164 Article VIII: Detection of a Knockdown Resistance Mutation Associated with Permethrin Resistance in the Body Louse Pediculus humanus corporis by Use of Melting Curve Analysis Genotyping Journal of Clinical Microbiology 50:2229-2233. 165 Detection of a Knockdown Resistance Mutation Associated with Permethrin Resistance in the Body Louse Pediculus humanus corporis by Use of Melting Curve Analysis Genotyping Updated information and services can be found at: http://jcm.asm.org/content/50/7/2229 These include: SUPPLEMENTAL MATERIAL REFERENCES CONTENT ALERTS http://jcm.asm.org/content/suppl/2012/06/12/50.7.2229.DC1.ht ml This article cites 30 articles, 7 of which can be accessed free at: http://jcm.asm.org/content/50/7/2229#ref-list-1 Receive: RSS Feeds, eTOCs, free email alerts (when new articles cite this article), more» Information about commercial reprint orders: http://journals.asm.org/site/misc/reprints.xhtml To subscribe to to another ASM Journal go to: http://journals.asm.org/site/subscriptions/ 167 Downloaded from http://jcm.asm.org/ on July 5, 2012 by INIST-CNRS BiblioVie Rezak Drali, Samir Benkouiten, Sékéné Badiaga, Idir Bitam, Jean Marc Rolain and Philippe Brouqui J. Clin. Microbiol. 2012, 50(7):2229. DOI: 10.1128/JCM.00808-12. Published Ahead of Print 9 May 2012. Detection of a Knockdown Resistance Mutation Associated with Permethrin Resistance in the Body Louse Pediculus humanus corporis by Use of Melting Curve Analysis Genotyping Rezak Drali,a,b Samir Benkouiten,a Sékéné Badiaga,a Idir Bitam,c Jean Marc Rolain,a and Philippe Brouquia Aix-Marseille Université, URMITE CNRS-IRD, UMR 6236/198 IHU Méditerranée Infection, Faculté de Médecine et de Pharmacie, Marseille, Francea; Service des Entérobactéries et Hygiène de l’Environnement, Institut Pasteur d’Algérie, Algiers, Algeriab; and Service d’Ecologie des Systèmes Vectoriels, IRD 198, Institut Pasteur d’Algérie, Algiers, Algeriac T he human body louse Pediculus humanus corporis (P. h. corporis) is a hematophagous ectoparasite that lives and multiplies in clothing. Body lice are vectors of 3 major infectious diseases: epidemic typhus caused by Rickettsia prowazekii, relapsing fever caused by Borrelia recurrentis, and trench fever caused by Bartonella quintana (24). The poor living conditions and crowded situations in homeless, war refugee, or natural disaster victim populations provide ideal conditions for the spread of lice (23). Body louse infestation has been observed in 22% of the sheltered homeless population in Marseille, France, causing trench fever, epidemic typhus, and relapsing fever (4), and coinfestation with head lice is often noted. Consequently, all measures that can be used to decrease the burden of these ectoparasites in homeless people are warranted to avoid the spread and/or outbreak of these diseases. Clothing change as well as the use of ivermectin to eradicate the body lice in a cohort of homeless individuals in Marseille was unsuccessful (10), suggesting that the complete eradication of this ectoparasite is a true challenge (1, 5). It was therefore essential for us to investigate other strategies to reach this goal. During the 1980s, a study conducted by the U.S. Army demonstrated that the use of uniforms impregnated with 0.125 mg/ cm2 permethrin effectively eradicated body lice (28). The resistance to permethrin, known as knockdown resistance (kdr), was first identified in the housefly Musca domestica (8) and is due to the presence of mutations in the gene encoding the � subunit of the sodium channel that is responsible for the depolarization of nerve cells (9). To date, permethrin resistance has never been studied in P. h. corporis. However, in the head louse Pediculus humanus capitis (P. h. capitis), resistance to permethrin was first reported in France in 1994 and throughout the world thereafter July 2012 Volume 50 Number 7 (11). This resistance is generated by three point mutations, resulting in the amino acid substitutions M815I, T917I, and L920F in the paraorthologous voltage-sensitive sodium channel (VSSC) � subunit (17). According to various authors, these mutations are often found en bloc as a resistant haplotype (7). In Marseille, we wished to conduct a pilot prospective study to eradicate body louse infestations in the homeless individuals frequenting the shelters by providing them with underwear impregnated with a solution of 0.4% permethrin. For this purpose, it was critical to be able to evaluate permethrin resistance before and during the study using a rapid and specific molecular method. There are currently several different methods available for detecting the mutations responsible for kdr in head lice, including PCR-restriction fragment length polymorphism (PCR-RFLP) (15) and quantitative sequencing (QS), real-time PCR amplification of a specific allele (rtPASA), and serial invasive signal amplification reaction (SISAR) (6). Nevertheless, these methods are time-consuming and not applicable to the investigation of large quantities of arthropods. We report here a rapid and reliable sin- Received 26 March 2012 Returned for modification 17 April 2012 Accepted 27 April 2012 Published ahead of print 9 May 2012 Address correspondence to Jean Marc Rolain, jean-marc.rolain@univmed.fr, or Philippe Brouqui, philippe.brouqui@univmed.fr. Supplemental material for this article may be found at http://jcm.asm.org/. Copyright © 2012, American Society for Microbiology. All Rights Reserved. doi:10.1128/JCM.00808-12 Journal of Clinical 168Microbiology p. 2229 –2233 jcm.asm.org 2229 Downloaded from http://jcm.asm.org/ on July 5, 2012 by INIST-CNRS BiblioVie Louse-borne diseases are prevalent in the homeless, and body louse eradication has thus far been unsuccessful in this population. We aim to develop a rapid and robust genotyping method usable in large field-based clinical studies to monitor permethrin resistance in the human body louse Pediculus humanus corporis. We assessed a melting curve analysis genotyping method based on real-time PCR using hybridization probes to detect the M815I-T917I-L920F knockdown resistance (kdr) mutation in the paraorthologous voltage-sensitive sodium channel (VSSC) � subunit gene, which is associated with permethrin resistance. The 908-bp DNA fragment of the VSSC gene, encoding the � subunit of the sodium channel and encompassing the three mutation sites, was PCR sequenced from 65 lice collected from a homeless population. We noted a high prevalence of the 3 indicated mutations in the body lice collected from homeless people (100% for the M815I and L920F mutations and 56.73% for the T917I mutation). These results were confirmed by melting curve analysis genotyping, which had a calculated sensitivity of 100% for the M815I and T917I mutations and of 98% for the L920F mutation. The specificity was 100% for M815I and L920F and 96% for T917I. Melting curve analysis genotyping is a fast, sensitive, and specific tool that is fully compatible with the analysis of a large number of samples in epidemiological surveys, allowing the simultaneous genotyping of 96 samples in just over an hour (75 min). Thus, it is perfectly suited for the epidemiological monitoring of permethrin resistance in human body lice in large-scale clinical studies. Drali et al. gle-step method to allow the monitoring of kdr in human body lice. MATERIALS AND METHODS 2230 jcm.asm.org RESULTS PCR amplification and sequencing of the 908-bp fragment of the VSSC gene. A total of 65 lice, including 52 body lice and 1 head louse from homeless persons, 11 body lice from the laboratory colony, and 1 head louse from a schoolchild in Algeria, were used for this assay. The concentration of genomic DNA extracted from the lice varied from 10 to 50 ng/�l. The 908-bp DNA fragment of the VSSC gene encoding the � subunit of the sodium channel was successfully amplified in all 65 lice tested. Direct sequencing and multiple alignments of these fragments allowed us to deduce the complete reference sequence. Four introns of various sizes (87, 86, 88, and 85 bp) and three exons (141, 174, and 163 bp) were found (see Fig. S1 in the supplemental material). The genotyping results of the 3 mutation sites in the 65 lice tested are summarized in Table 1, with several different profiles identified. Of the specimens genotyped using the Sanger sequencing method and designated RG (reference genotype), 31% exhibited a resistant haplotype (RRR), 29% showed an RHR haplotype, 22% showed an RSR haplotype, and 18% showed a wild-type haplotype (SSS). An alignment of the 65 obtained sequences indicated that all of the lice tested, which contained at least one of the 3 target mutations, also had a single nucleotide polymorphism in the second intron, at approximately nucleotide (nt) 2484 � 4, A� T (data not shown). Melting curve analysis genotyping. The real-time PCR technique was first improved by testing the known genotype clones. Each of the three mutations was targeted individually. The results obtained with the melting curve analysis and sequencing were superimposable for the three mutation sites. As expected, the wild-type allele showed a peak with a higher Tm than that of the mutated allele because the detection probe complementary to the mutated allele was detached earlier in the presence of a mismatch during the melting step. In addition, the Tm of the duplex probe/mutated codon is lower than that of the duplex probe/wildtype codon. A double peak is characteristic of heterozygotes (see Fig. S2 in the supplemental material). Thus, the G�T transversion responsible for the replacement of a methionine with an isoleucine at position 815 and the C�T 169 Journal of Clinical Microbiology Downloaded from http://jcm.asm.org/ on July 5, 2012 by INIST-CNRS BiblioVie Body louse populations. Body lice were collected from volunteers at 2 homeless shelters in Marseille before the beginning of a permethrin clinical trial. The research complied with all relevant federal guidelines and institutional policies (ID RCB: 2010-A01406-33). Alternatively, homeless individuals were given new clothes, and their louse-infested clothing was removed and brought to the laboratory for louse removal. A colony of in-house human body lice maintained on rabbits and never exposed to permethrin has been used as a wild-type control. Two head lice collected in France and Algeria and stored in our laboratory were also used as possibly resistant specimens. Genomic DNA extraction. Prior to DNA extraction, the collected lice were immersed in 70% ethanol for 15 min and then rinsed with distilled water. Each louse was cut longitudinally into two parts. DNA extraction was performed using a Qiagen tissue kit (Hilden, United Kingdom), according to the manufacturer’s instructions. The extracted DNA was assessed for quantity and quality using a NanoDrop instrument (Thermo Scientific, Wilmington, United Kingdom) before being stored at �20°C. PCR amplification and sequencing of the 908-bp fragment of the VSSC gene. By analogy with head lice, Lee et al. (17) hypothesized that acquired resistance to permethrin in body lice was associated with the same mutations. Consequently, we chose to use the already-reported specific primers 5=HL-QS (5=-ATTTTGCGTTTGGGACTGCTGTT-3=) and 3=HL-QS (5=-CCATCTGGGAAGTTCTTTATCCA-3=) to amplify the 908-bp DNA fragment of the VSSC gene (16). The Phusion high-fidelity DNA polymerase (Finnzymes, Thermo Scientific, Vantaa, Finland) was used. The reactions were performed in a final volume of 50 �l with 1 U Phusion polymerase, 10 �l 5� Phusion buffer, 0.5 mM (each) primer, 0.16 mM deoxynucleoside triphosphates (dNTPs), and 30 to 50 ng of DNA. The amplification consisted of 35 cycles (98°C for 5 s, 56°C for 30 s, and 72°C for 15 s), preceded by an initial phase at 98°C for 30 s and followed by a termination phase at 72°C for 5 min. The PCRs were performed using the Mastercycler Thermocycler (Eppendorf, Hamburg, Germany). After amplification, all of the PCR products were analyzed by electrophoresis on 1.5% agarose gels using ethidium bromide staining. Bidirectional DNA sequencing of the targeted 908-bp PCR products was performed using the 3130XL genetic analyzer (Applied Biosystems, Courtaboeuf, France) with the BigDye Terminator v1.1 cycle (Applied Biosystems). The electropherograms obtained for each sequence were analyzed using ChromasPro software. A multiple alignment was performed by the ClustalW method using the Basic Local Alignment Search Tool (BLASTn for nucleotide comparisons) available at http://blast.ncbi.nlm .nih.gov/. Cloning of the 908-bp DNA fragments. As a high-quality source of target DNA to optimize the test, we amplified DNA fragments from two body lice that had previously been sequenced and shown to be homozygous for the three mutations and cloned them into the pGEM-T Easy vector systems (Promega, Madison, WI) according to the manufacturer’s recommendations. The first louse exhibited a wild-type susceptible genotype (SSS), and the second displayed a resistant genotype (RRR). To obtain a heterozygous genotype (HHH), we mixed the two cloned DNA fragments in equal proportions (1:1). R, S, and H represented homozygous resistant, homozygous wild-type, and heterozygous genotypes, respectively. One clone per louse was chosen to conduct our experiments. The plasmids containing the cloned fragments were extracted using the alkaline lysis method (3). Melting curve analysis genotyping. The melting curve analysis genotyping method is based on real-time PCR with hybridization probes, using fluorescent resonance energy transfer (FRET) technology. Two sets of primers were designed to amplify specific regions: (i) a 144-bp genomic fragment of the first exon to characterize the M815I (ATG�ATT) mutation and (ii) a 203-bp fragment of the third exon to detect the 2 other mutations, T917I (ACA�ATA) and L920F (CTT�TTT). In addition to the two primer pairs, two hybridization probes, an anchor probe and a reporter probe, were designed by Tib Molbiol (DNA Synthesis Service, Berlin, Germany) to detect each of the three targeted mutations (see Table S1 in the supplemental material). These probes are alternatively labeled with fluorescein and LC Red 640 fluorochromes. The probes hybridize head to tail to the region containing the mutation site to genotype, allowing the transfer of the fluorescence energy of fluorescein to that of Light Cycler Red 640 (Fig. 1). The emitted fluorescence is measured continuously during the melting phase, during which the temperature is gradually increased, allowing the determination of the melting temperature (Tm) of the reporter probe. The reactions were performed using a LightCycler 480 (Roche Diagnostics Corp.) in 96-well plates (LightCycler Multiwell Plate 96). In a final volume of 20 �l, 10 �l 2� QuantiTect Probe PCR Master Mix (Qiagen), 0.5 mM (each) primer, 0.2 mM anchor probe, 0.2 mM probe reporter, and between 5 and 20 ng DNA were mixed. Two different programs were used for the detection of three mutations in this study (see Table S2 in the supplemental material). Data analysis. The sensitivity and specificity of the melting curve analysis genotyping method were tested using a contingency table representing the findings of the method test compared to the gold standard of sequencing. The statistical analyses were performed using SPSS for Windows, version 17.2. Knockdown Resistance in Body Louse (ACA�ATA) and L920F (CTT�TTT) in the third exon, 2 amplicons (a to c) spanning the region containing the polymorphic sites are amplified with 2 sets of primers (primers Seq1 F [forward] and Seq1 A [reverse] [a] and primers Seq2 S [forward] and Seq2 A [reverse] [b and c]). TABLE 1 Validation of the method of genotyping by comparing the results of melting curve analysis (predicted genotype) and Sanger sequencing (reference genotype)a No. of lice in exon with mutation, determined by method Louse type (no. of lice tested) First exon, M815I, ATG�ATT Phenotype PG RG Third exon T917I, ACA�ATA L920F, CTT�TTT PG RG PG RG c Body lice from homeless (52) S H R 0 0 52 0 0 52 13 18 21b 13 19 20 1 0 51 0 0 52 Head louse from homeless (1) S H R 0 0 1 0 0 1 0 1 0 0 1 0 0 0 1 0 0 1 Human body lice bred on rabbits (11) S H R 11 0 0 11 0 0 11 0 0 11 0 0 11 0 0 11 0 0 Head louse from Algeria (1) S H R 1 0 0 1 0 0 1 0 0 1 0 0 1 0 0 1 0 0 a DISCUSSION Abbreviations: PG, predicted genotype obtained by melting curve analysis genotyping method; RG, reference genotype obtained by the Sanger sequencing method; R, resistant homozygote in which both alleles are mutated; S, susceptible homozygote in which neither allele is mutated; H, heterozygote in which only one of the two alleles is mutated. b False-positive result. c False-negative result. July 2012 Volume 50 Number 7 transitions causing the replacements of a threonine with an isoleucine at position 917 and a leucine with an phenylalanine at position 920 each shift the Tm by 7 to 8°C. To ensure that the results reflected the targeted fragments, we have verified the PCR products by sequencing after genotyping (data not shown). We then focused on the 65 lice for which the sequence of interest was previously determined using the Sanger sequencing method. The genotypes for each louse obtained by the melting curve analysis genotyping, designated PG (predicted genotype), are reported in Table 1. Sensitivity and specificity of the real-time PCR with hybridization probe technique. Of the 195 tests performed, only two results were discordant with those obtained by the reference method: a false positive for the T917I mutation and a false negative for the L920F mutation (Table 1). The calculated sensitivity was 100% for the M815I and T917I mutations and 98% for the L920F mutation; the specificity was 100% for M815I and L920F and 96% for T917I. In contrast to head lice, for which the kdr frequency was sometimes as high as 0.90, the permethrin resistance of the body lice was still unknown. Consequently, to promote the eradication of body lice in the homeless population, we have planned a clinical study using permethrin-impregnated underwear. Monitoring the resistance of body lice to permethrin in the homeless population before and during the clinical trial was determined to be mandatory. To achieve this goal, we opted to use a robust and simple 170 jcm.asm.org 2231 Downloaded from http://jcm.asm.org/ on July 5, 2012 by INIST-CNRS BiblioVie FIG 1 Schematic diagram showing the hybridization of the FRET probes. For the detection of the kdr mutations, M815I (ATG�ATT) in the first exon and T917I Drali et al. 2232 jcm.asm.org tive, and specific tool that is fully compatible with the analysis of a large number of samples in epidemiological surveys, allowing the simultaneous genotyping of 96 samples in just over an hour (75 min). Therefore, this method is perfectly suited to the epidemiological monitoring of permethrin resistance in large-scale clinical studies. ACKNOWLEDGMENTS This study was funded in part by PHRC 2010 from the French Ministry of Health. The text has been edited by American Journal Experts under certificate verification key 7DCD-BB1D-3851-ACC7-FB0D. We gratefully thank Didier Raoult from URMITE Marseille for suggestions and help with this study and Amina Boutellis, Jean Christophe Lagier, Elisabeth Botelho-Nevers, Mathieu Million, Djamel Thiberville, Nadim Cassir, and Aurélie Veracx for their assistance. REFERENCES 1. Badiaga S, et al. 2008. The effect of a single dose of oral ivermectin on pruritus in the homeless. J. Antimicrob. Chemother. 62:404 – 409. 2. Bass C, et al. 2007. Detection of knockdown resistance (kdr) mutations in Anopheles gambiae: a comparison of two new high-throughput assays with existing methods. Malar. J. 6:111. 3. Birnboim HC, Doly J. 1979. A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res. 7:1513–1523. 4. Brouqui P, et al. 2005. Ectoparasitism and vector-borne diseases in 930 homeless people from Marseilles. Medicine (Baltimore) 84:61– 68. 5. Chosidow O. 2000. Scabies and pediculosis. Lancet 355:819 – 826. 6. Clark JM. 2009. Determination, mechanism and monitoring of knockdown resistance in permethrin-resistant human head lice, Pediculus humanus capitis. J. Asia Pac. Entomol. 12:1–7. 7. Clark JM. 2010. Permethrin resistance due to knockdown gene mutations is prevalent in human head louse populations. Open Dermatol. J. 4:63– 68. 8. Davies TG, Field LM, Usherwood PN, Williamson MS. 2007. DDT, pyrethrins, pyrethroids and insect sodium channels. IUBMB Life 59:151–162. 9. Dong K. 2007. Insect sodium channels and insecticide resistance. Invert. Neurosci. 7:17–30. 10. Foucault C, et al. 2006. Oral ivermectin in the treatment of body lice. J. Infect. Dis. 193:474 – 476. 11. Hemingway J, Ranson H. 2000. Insecticide resistance in insect vectors of human disease. Annu. Rev. Entomol. 45:371–391. 12. Hodgdon HE, et al. 2010. Determination of knockdown resistance allele frequencies in global human head louse populations using the serial invasive signal amplification reaction. Pest Manag. Sci. 66:1031–1040. 13. Hurlbut HS, Peffly RL, Salah AA. 1954. DDT resistance in Egyptian body lice. Am. J. Trop. Med. Hyg. 3:922–929. 14. Kim HJ, Symington SB, Lee SH, Clark JM. 2004. Serial invasive signal amplification reaction for genotyping permethrin-resistant (kdr-like) human head lice, Pediculus capitis. Pestic. Biochem. Physiol. 80:173–182. 15. Kristensen M. 2005. Identification of sodium channel mutations in human head louse (Anoplura: Pediculidae) from Denmark. J. Med. Entomol. 42:826 – 829. 16. Kwon DH, Yoon KS, Strycharz JP, Clark JM, Lee SH. 2008. Determination of permethrin resistance allele frequency of human head louse populations by quantitative sequencing. J. Med. Entomol. 45:912–920. 17. Lee SH, et al. 2003. Sodium channel mutations associated with knockdown resistance in the human head louse, Pediculus capitis (De Geer). Pestic. Biochem. Physiol. 75:79 –91. 18. Lee SH, et al. 2000. Molecular analysis of kdr-like resistance in permethrin-resistant strains of head lice, Pediculus capitis. Pestic. Biochem. Physiol. 66:130 –143. 19. Lyon E, Wittwer CT. 2009. LightCycler technology in molecular diagnostics. J. Mol. Diagn. 11:93–101. 20. McLintock J, Zeini A, Djanbakhsh B. 1958. Development of insecticide resistance in body lice in villages of North-Eastern Iran. Bull. World Health Organ. 18:678 – 680. 21. Motovska Z, et al. 2010. Platelet gene polymorphisms and risk of bleeding in patients undergoing elective coronary angiography: a genetic substudy of the PRAGUE-8 trial. Atherosclerosis 212:548 –552. 22. Randegger CC, Hachler H. 2001. Real-time PCR and melting curve analysis for reliable and rapid detection of SHV extended-spectrum betalactamases. Antimicrob. Agents Chemother. 45:1730 –1736. 171 Journal of Clinical Microbiology Downloaded from http://jcm.asm.org/ on July 5, 2012 by INIST-CNRS BiblioVie single-step melting curve analysis genotyping method. Since its establishment in 1997 (19), this method has been particularly useful in detecting known mutations causing human diseases such as cancer (27) and other disorders (30). The melting curve analysis genotyping technique is also used in other fields, such as molecular haplotyping (21), bacteriology (22), parasitology (26), and virology (25). Using this method allowed us to determine the genotype of human lice at each mutation site. Furthermore, its ability to detect heterozygotes makes it particularly useful for following the dynamics of the kdr mutation in a targeted population of lice. Despite the two inaccurate results, a false positive and a false negative for the T917I and L920F mutations, respectively, in our total of 195 tests, the melting curve analysis genotyping method proved to have great sensitivity (98% to 100%) and excellent specificity (96% to 100%) in the detection and characterization of allelic resistance to permethrin in human lice. The false-positive result could be due to differences in the strength of probe binding (2) or polymerization errors during the insertion of nucleotides by the Taq polymerase during real-time PCR. The resequencing of this sample confirmed its initial genotypic status, which was heterozygous. Conversely, the false-negative result could have been due to a manipulation error during the distribution of the DNA samples or the reagent mixtures into the 96-well plates. Several tools described in the literature are available to monitor both phenotypic and genotypic resistance traits in head lice. In addition to being faster than conventional phenotypic bioassays, which are tedious and not adapted to such large-scale purposes (18), these techniques can simultaneously detect the allele frequencies and point mutations associated with resistance to permethrin without gene sequencing (14). The eradication of body lice in the homeless is a major challenge. We implemented several different clinical trials during the past 10 years to fight louse infestations without success (4). Although resistance to DDT was reported at the end of the 1940s and in the early 1950s in the United States, southeast Asia, Egypt, and Iran (13, 20), to the best of our knowledge, no data are available for permethrin resistance in P. h. corporis. In this work, we noted a high prevalence of the 3 indicated mutations in the body lice collected from homeless people (100% for the M815I and L920F mutations and 56.73% for the T917I mutation). As suggested for head lice, under the selective pressure of permethrin, the mutations M815I and L920F are the first to take place. This event would be followed by the onset of the T917I mutation (12), which is considered the main cause of this resistance, while the M815I and L920F mutations would reduce permethrin sensitivity (29). These findings suggest that the population of body lice infesting homeless people in Marseille has been subjected to selective pressure. Overuse of synthetic pyrethroids to eradicate the various insect pests, notably the increasing infestation with bedbugs in the last 4 decades, has been well documented and probably accounts for the level of resistance reported here. The presence of a single nucleotide polymorphism (SNP), at approximately nt 2484 � 4, A�T, at the beginning of the second intron of the 908-bp target sequence of the VSSC gene, was an unexpected finding. This polymorphism was found exclusively in those lice that displayed at least one of the 3 tested mutations and could represent an informative SNP for the presence or absence of these mutations; however, further investigations are required to address this possibility. In conclusion, melting curve analysis genotyping is a fast, sensi- Knockdown Resistance in Body Louse 23. Raoult D, Foucault C, Brouqui P. 2001. Infections in the homeless. Lancet Infect. Dis. 1:77– 84. 24. Raoult D, Roux V. 1999. The body louse as a vector of reemerging human diseases. Clin. Infect. Dis. 29:888 –911. 25. Ratcliff RM, Chang G, Kok T, Sloots TP. 2007. Molecular diagnosis of medical viruses. Curr. Issues Mol. Biol. 9:87–102. 26. Safeukui I, et al. 2008. Evaluation of FRET real-time PCR assay for rapid detection and differentiation of Plasmodium species in returning travellers and migrants. Malar. J. 7:70. 27. Schnittger S, et al. 2006. KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. Blood 107:1791–1799. 28. Sholdt LL, Rogers EJ, Jr, Gerberg EJ, Schreck CE. 1989. Effectiveness of permethrin-treated military uniform fabric against human body lice. Mil. Med. 154:90 –93. 29. SupYoon KS, Symington SB, Lee SH, Soderlund DM, Clark JM. 2008. Three mutations identified in the voltage-sensitive sodium channel alpha subunit gene of permethrin-resistant human head lice reduce the permethrin sensitivity of houde fly Vssc1 sodium channels expressed in Xenopus oocytes. Insect. Biochem. Mol. Biol. 38:296 –308. 30. Wee L, Vefring H, Jonsson G, Jugessur A, Lie RT. 2010. Rapid genotyping of the human renin (REN) gene by the LightCycler instrument: identification of unexpected nucleotide substitutions within the selected hybridization probe area. Dis. Markers 29:243–249. Downloaded from http://jcm.asm.org/ on July 5, 2012 by INIST-CNRS BiblioVie July 2012 Volume 50 Number 7 172 jcm.asm.org 2233 87 bp Intron 1 86 bp Intron 2 815 H D M D K CAC GAC ATG GAT AAA + + I + + *** *** **T *** *** 141 bp 1st exon 174 bp 2nd exon 88 bp 163 bp 3rd exon 85 bp Intron 4 3’ HL-QS 917 920 L T F V L C TTA ACA TTC GTC CTT TGC Wild type + I + + F + *** *T* *** *** T** *** Mutated Intron 3 173 type sequence in the region of interest obtained from a body louse that was raised on a rabbit in the laboratory. corporis, containing the three mutations, M815I (ATG / ATT), T917I (ACA / ATA) and L920F (CTT / TTT). (b) Electropherograms of the wild- Supplementary figure 1. (a) A diagram of the 908 bp fragment of the VSSC gene encoding the α-subunit of a sodium channel in P. humanus (b) (a) 5’ HL-QS Genotyping of the mutation site the same position. one mutated (CT). Bottom, the mutated allele showed a T at C., Middle, heterozygote with two alleles, one wild-type and mutation site in 3 samples. Top, the wild-type allele bearing a the melting curves. (c) Electropherograms of the (T917I) negative control. (b) Derivative melting peaks obtained from in red, the compound heterozygote (CT); and in azure the green, the homozygous mutant (TT); in blue, wild-type (CC); (T917I) using melting curve analysis. (a) Melting curves: in Supplementary figure 2. (b) (a) 174 Negative control TT Homozygote CT Heterozygote CC Wild Type (c) Supplementary Table 1. DNA sequences of the primers and probes used to detect kdr mutations in body lice. Primer or probe Sequence Seq1 F (forward) ACCCATTCGTCGAATTATTCATAACT Seq1 A (reverse) CCCCGCATTAAAATTAAATTTTTAC Seq1 mut TCTGTCCATGTCTTTATCCATGTC-FLb Anchor Seq1 LC-640-TGATGATCCAAAGCCATAAATAGTGTGTT-P Seq2 S (forward) TTTTTTTCTTTTTATGACGAAAC Seq2 A (reverse) CCCGTGTAATTTTTTCCA Anchor 1 AATTTCAATTATGGGTCGAACTGTTGG-FL Sensor 1 C LC-640-GCTTTGGGTAATTTAACATTCGTC-P Sensor 2 C ATTCGTCCTTTGCATTATCATATTCAT-FL Anchor 2 LC-640-TTTGCCGTTATGGGAATGCAACTT-P Exon and a.a. positiona exon 1 M815I exon 3 T917I and L920F LC-Red 640 and fluorescein are fluorophores. The 3’ end of the one of the two probes in each pair was phosphorylated to prevent probe elongation by Taq polymerase during the PCR. Bold, codons; underlined, mutated bases. a The amino acids are numbered is according to GenBank accession no. AY191155 b FL, fluorescein; LC-Red 640, LightCycler-Red 640; P, phosphorylated. 175 Supplementary Table 2. Programs for real-time PCR to detect kdr mutations using the Light Cycler apparatus 480. Mutations M815I Primers Seq1F/Seq1A Size Denaturation 144 bp 95 °C; 15 min T917I and or LightCycler© 480 Program Seq2S/Seq2A 203 bp L920F 176 Amplification Melting 95 °C; 01 sec 95 °C; 1 sec 60 °C; 10 sec 40 °C; 30 sec 72 °C; 06 sec 80 °C; 95 °C; 01 sec continuous 51 °C; 15 sec transition rate: 72 °C; 10 sec 0.1 °C/sec Article IX: Effect of Permethrin-Impregnated Underwear on Body Lice in Sheltered Homeless Persons: a Randomized Controlled Trial JAMA Dermatology 150:273-279. 177 Research Original Investigation Effect of Permethrin–Impregnated Underwear on Body Lice in Sheltered Homeless Persons A Randomized Controlled Trial Samir Benkouiten, MPH; Rezak Drali, MSc; Sékéné Badiaga, MD, PhD; Aurélie Veracx, PhD; Roch Giorgi, MD, PhD; Didier Raoult, MD, PhD; Philippe Brouqui, MD, PhD IMPORTANCE The control of body lice in homeless persons remains a challenge. Supplemental content at jamadermatology.com OBJECTIVE To determine whether the use of long-lasting insecticide–treated underwear provides effective long-term protection against body lice in homeless persons. DESIGN, SETTING, AND PARTICIPANTS A randomized, double-blind, placebo-controlled trial was conducted in February and December 2011 in 2 homeless shelters (Madrague Ville and Forbin) in Marseille, France. Of the 125 homeless persons screened for eligibility, 73 body lice–infested homeless persons, 18 years or older, were enrolled. INTERVENTIONS Body lice–infested homeless persons were randomly assigned to receive 0.4% permethrin–impregnated underwear or an identical-appearing placebo for 45 days, in a 1:1 ratio, with a permuted block size of 10. Visits were scheduled at days 14 and 45. Data regarding the presence or absence of live body lice were collected. MAIN OUTCOMES AND MEASURES The primary and secondary end points were the proportions of homeless persons free of body lice on days 14 and 45, respectively. Mutations associated with permethrin resistance in the body lice were also identified. RESULTS Significantly more homeless persons receiving permethrin-impregnated underwear than homeless persons receiving the placebo were free of body lice on day 14 in the intent-to-treat population (28% vs 9%; P = .04), with a between-group difference of 18.4 percentage points (95% CI, 1.4-35.4), and in the per-protocol population (34% vs 11%; P = .03), with a between-group difference of 23.7 percentage points (95% CI, 3.6-43.7). This difference was not sustained on day 45. At baseline, the prevalence of the permethrinresistant haplotype was 51% in the permethrin group and 44% in the placebo group. On day 45, the permethrin-resistant haplotype was significantly more frequent in the permethrin group than in the placebo group (73% vs 45%, P < .001). CONCLUSION AND RELEVANCE Permethrin–impregnated underwear is more efficient than placebo at eliminating body louse infestations by day 14; however, this difference was not sustained on day 45. The use of permethrin may have increased the resistance to permethrin in body lice and thus must be avoided. TRIAL REGISTRATION clinicaltrials.gov Identifier: NCT01287663 JAMA Dermatol. doi:10.1001/jamadermatol.2013.6398 Published online December 4, 2013. Author Affiliations: Unité de Recherche sur les Maladies Infectieuses et Tropicales Émergentes, Aix-Marseille Université, Marseille, France (Benkouiten, Drali, Badiaga, Veracx, Raoult, Brouqui); Institut Hospitalo-Universitaire Méditerranée Infection, Marseille, France (Benkouiten, Drali, Veracx, Giorgi, Raoult, Brouqui); Service des Entérobactéries et Hygiène de l'Environnement, Institut Pasteur d'Algérie, Alger, Algérie (Drali); Institut National de la Santé et de la Recherche Médicale, Aix-Marseille Université, Marseille, France (Giorgi). Corresponding Author: Philippe Brouqui, MD, PhD, Aix Marseille Université, URMITE, 27 bd Jean Moulin, 13005 Marseille, France (philippe.brouqui@univ-amu.fr). E1 179 Copyright 2013 American Medical Association. All rights reserved. Downloaded From: http://archderm.jamanetwork.com/ by American Medical Association, June Robinson on 12/30/2013 Research Original Investigation Permethrin–Impregnated Underwear H omelessness is a major social and public health problem worldwide. The prevalence of body lice in sheltered homeless persons varies from 7% to 22%.1 Body lice are known vectors of Bartonella quintana, Rickettsia prowazekii, and Borrelia recurrentis, which cause trench fever, epidemic typhus, and relapsing fever, respectively. 2 Consequently, all measures that can be used to decrease the burden of body lice infestation in homeless persons, and more generally in persons living in crowded and unhygienic environments, are warranted to avoid the spread and/or outbreak of these diseases. Pediculus humanus humanus, the human body louse, is a host-specific hematophagous ectoparasite that lives in the clothes. Body lice are extremely contagious and can be spread through body contact, shared clothing, or shared bedding in overcrowded conditions.3 The classic therapeutic measures for body lice infestations are the frequent changing or washing of the infected person’s clothes and blankets at 50°C and the frequent treatment of bedding with insecticides.4 However, in our experience with the sheltered homeless persons in Marseille, France, these measures have had little success.5 Oral ivermectin reduces the prevalence of body lice infestations and pruritus in homeless persons, but the effect is transient.6,7 These findings suggest that the complete eradication of this ectoparasite in homeless persons remains a challenge.8 The pyrethroids are the major commercially available pediculicides. All World Health Organization–recommended insecticide-treated mosquito nets are pyrethroid based.9 The impregnation of clothing with a pyrethroid emulsion has been reported to eradicate body lice after a single application to military uniforms, even after 20 washes,10 and may provide longlasting protection. The clinical safety and effectiveness of topical permethrin in humans have been reported previously.11,12 We conducted our randomized, double-blind, placebocontrolled study to determine whether the use of longlasting permethrin–treated underwear provides long-term protection against louse proliferation in sheltered homeless persons. Our secondary aim was to assess the mutations associated with permethrin resistance in the body lice. Methods Study Design Our study was a double-center, double-blind, randomized, placebo-controlled intervention trial. Homeless persons were given underwear treated with permethrin or an identicalappearing placebo for 45 days. The protocol was approved by our institutional review board (January 24, 2011; reference 2010-A01406-33), and the study was performed in accordance with the good clinical practices recommended by the Declaration of Helsinki and its amendments. All participants provided written informed consent. This study is registered with clinicaltrials.gov (identifier NCT01287663). Underwear Preparation An 8% (8-g/L) permethrin formulation for impregnation, which is commercially available under the label Barrage Insect (S.P.C.I. E2 S.A., Paris, France), was prepared as a 1:20 emulsion in water as recommended by the manufacturer. The impregnation was performed by an independent person in the Public Hospitals of Marseille laundry. Sets of underwear (T-shirt, underpants, and socks) were placed into the emulsion for 15 minutes, completely saturated, removed, and allowed to dry. Once dry, the underwear was odorless. According to the manufacturer’s instructions, the permethrin–impregnated underwear is effective up to 6 months and even after 6 washes. Other sets of underwear were treated identically but without the permethrin formulation. The permethrinimpregnated and placebo underwear were identical in appearance but were labeled discreetly and then stored in 2 separate boxes until use. Participants To recruit a sufficient number of participants, 2 independent study cohorts of homeless persons were performed. In study A, homeless persons were recruited in February 2011 from 2 shelters (Madrague Ville and Forbin) in the city of Marseille. In study B, different homeless persons were recruited in December 2011 from the same 2 shelters. Each facility provides nighttime shelter for a mean of 300 homeless persons who stay in the shelter overnight and leave it in the morning. Homeless persons with a self-reported diagnosis of pruritus and/or with body lice were screened. Homeless persons were eligible for inclusion in the study if they were 18 years or older, were able to provide consent, declared that they slept at least 3 nights per week in 1 of the 2 shelters, and had at least 1 live body louse recovered on examination. The exclusion criteria were the presence of cutaneous superinfection or intravenous drug use. Randomization and Interventions Homeless persons were randomly assigned to the intervention group with sealed, opaque envelopes in a 1:1 ratio with a permuted block size of 10. Participants and investigators were unaware of the treatment assignments throughout the study. Visits were scheduled on days 14 and 45. Data on the presence or absence of live body lice, whether the clothes had been changed between visits, and the occurrence of adverse events were collected. All participants received their protocol underwear on day 1 (baseline) and at each follow-up visit (on days 14 and 45) under the supervision of the investigators. The underwear could also be changed between the follow-up visits in the shelters at the request of the individual (with respect to the assigned group). The used underwear was collected by the same entomologist for detailed visual inspection. This evaluator was trained in the technique for detecting and counting live body lice from the infested underwear. Dead and living lice were differentiated; lice were considered to be dead if they were not moving. Homeless persons were excluded from further study if they had any manifestations suggesting adverse effects, and specific treatment was given as needed. The final visit on day 45 was regarded as the end of the study for every participant. If persistent live body lice were found at this visit, homeless persons were offered a single dose of oral ivermectin (12 mg).6 JAMA Dermatology Published online December 4, 2013 180 Copyright 2013 American Medical Association. All rights reserved. Downloaded From: http://archderm.jamanetwork.com/ by American Medical Association, June Robinson on 12/30/2013 jamadermatology.com Original Investigation Research Permethrin–Impregnated Underwear Figure. Study Flow of Participants 125 Homeless persons assessed for eligibility 52 Excluded 52 Not infested with body lice 73 Randomized 40 Randomized to permethrin 33 Randomized to placebo 8 Lost to follow-up at day 14 5 Lost to follow-up at day 14 Included in analysis of primary end point 40 Included in intent-to-treat population 27 Included in per-protocol population Included in analysis of primary end point 33 Included in intent-to-treat population 28 Included in per-protocol population 13 Lost to follow-up at day 45 9 Lost to follow-up at day 45 Included in analysis of secondary end point 40 Included in intent-to-treat population 27 Included in per-protocol population Outcome Measures and Safety End Points The primary efficacy end point was the proportion of homeless persons free of body lice (defined as absence of living body lice in the underwear) 14 days after treatment. The secondary efficacy end point was the same assessment 45 days after treatment. End points were assessed on the basis of the exhaustive examination of live body lice in all collected underwear. The pruritus that normally accompanies body lice infestation may be exacerbated temporarily after dermal exposure to permethrin.13 Physical examinations were performed at scheduled visits, and adverse events were recorded during the 45-day study period. The prevalence and severity of pruritus, graded from 0 to 3 (0, none; 1, mild; 2, moderate; and 3, severe), were assessed at each visit. Another objective was to investigate the evolution of permethrin resistance in the body lice. The permethrin resistance of body lice was determined in a representative random sample of body lice collected from all body lice–infested homeless persons and stratified by the level of infestation of the homeless persons (see eTable 1 in the Supplement). A melting curve analysis genotyping method,14 based on a previously reported real-time polymerase chain reaction using hybridization probes, was used to detect the 3 mutations (M815I, T917I, and L920F), identified in the voltage-sensitive sodium channel α-subunit gene, responsible for knockdown resistance (kdr). According to the literature, these 3 mutations define the RRR haplotype, which confers permethrin resistance in head lice.15,16 Statistical Analysis We estimated that approximately 60 body lice–infested homeless persons (30 in each group) would need to be enrolled to provide 90% power to detect a difference of 40 percentage jamadermatology.com Screening and inclusion process for participants of the randomized controlled trial and flow of participants through each stage of the study. Included in analysis of secondary end point 33 Included in intent-to-treat population 24 Included in per-protocol population points between the permethrin and placebo groups when calculating the proportion of homeless persons free of body lice on day 14 with a 2-sided α = .05, assuming an anticipated effect between 20 and 40 percentage points in the placebo group. In our experience, approximately 70% of pruritus symptoms are due to body lice infestations, and presuming that the rate of individuals lost to follow-up could be up to 30%, we predicted that we would need to screen 122 homeless persons. Analyses were conducted in accordance with the intent-totreat and per-protocol principles. In the intent-to-treat analysis, only the homeless persons who were present at the scheduled follow-up visits were included. For the intent-to-treat analysis, loss to follow-up was considered a treatment failure. The Pearson χ2 test and Fisher exact test, as appropriate, were applied to analyze the primary and secondary end points of efficacy, and 95% CIs for the difference between the success rates in the study groups were calculated. The t test for independent groups and Mann-Whitney test, as appropriate, were used to investigate the safety end point of mean pruritus score and the continuous variables. P ≤ .05 (2-tailed test) was established as the level of significance for all tests. Statistical analyses were performed using SPSS statistical software, version 17.2 (SPSS Inc). Results Participants The trial profile is summarized in the Figure. Of the 125 homeless persons screened for eligibility in February and December 2011, 73 (58%) were eligible on the basis of the presence of live body lice (40 in the permethrin group and 33 in the placebo group) and were consequently randomized JAMA Dermatology Published online December 4, 2013 181 Copyright 2013 American Medical Association. All rights reserved. Downloaded From: http://archderm.jamanetwork.com/ by American Medical Association, June Robinson on 12/30/2013 E3 Research Original Investigation Permethrin–Impregnated Underwear Table 1. Demographic and Baseline Characteristics of the Study Groups No. (%) of Study Participantsa Characteristic Permethrin (n = 40) Age, mean (SD), y 56.4 (14) Men Placebo (n = 33) 57.62 (12) 37 (92) 33 (100) P Value .69 .24 Madrague Ville Shelter 36 (90) 31 (94) .68 Marginal homelessb 20 (50) 20 (61) .36 Homeless with >50 lice 18 (45) 19 (58) .28 Duration of homelessness ≤24 mo 15 (38) 19 (58) .08 Pruritus 40 (100) 33 (100) a Data are presented as number (percentage) of study participants unless otherwise indicated. b Classified by shelter staff. Table 2. Effect of Treatment on Days 14 and 45 in Study A and Study B Combined No./Total (%) Outcome Measure Permethrin Placebo Body lice–free homeless after 14 d 11/40 (28) 3/33 (9) Body lice–free homeless after 45 d 11/40 (28) 9/33 (27) Body lice–free homeless after 14 d 11/32 (34) 3/28 (11) Body lice–free homeless after 45 d 11/27 (41) 9/24 (38) Difference, % (95% CI) P Value Intent-to-treat population 18.4 (1.4 to 35.4) 0.2 (−20.3 to 20.8) .04 .98 Per protocol into the control and treatment groups (Figure). They were predominantly male (96%), were mostly from the Madrague Ville shelter (92%), and had a mean (SD) age of 56.9 (13.3) years (age range, 20-79 years). Approximately 45% reported being homeless for less than or equal to 24 months. Baseline characteristics were similar between the treatment groups (Table 1). Primary and Secondary Outcomes In the intent-to-treat population, 11 of 40 homeless persons (28%) were free of live body lice on day 14 (primary end point) in the permethrin group compared with 3 of 33 (9%) in the placebo group (P = .04), with a between-group difference of 18.4 percentage points (95% CI, 1.4-35.4) (Table 2). This proportion was also significantly greater in the permethrin group than in the placebo group in the per-protocol population (34% vs 11%; P = .03), with a between-group difference of 23.7 percentage points (95% CI, 3.6-43.7). With respect to the secondary efficacy end point, in the intent-to-treat population, 11 of 40 homeless persons (28%) were free of live body lice on day 45 in the permethrin group compared with 9 of 33 (27%) in the placebo group (28% vs 27%; P = .98), with a between-group difference of 0.2 percentage points (95% CI, –20.3 to 20.8). In addition, no significant difference was found between the 2 proportions in the perprotocol population (41% vs 38%; P = .81), with a betweengroup difference of 3.2 percentage points (95% CI, –23.6 to 30.0) (Table 2). Significant reductions from the baseline in the mean number of body lice were observed on day 14 and day 45 in the permethrin and placebo groups (see eTable 2 in the Supplement). However, no significant difference was found between the 2 groups on day 14 (mean [SD], 176.1 in the permethrin group vs 104 [202.1] in the placebo group; P = .18) or on day E4 23.7 (3.6 to 43.7) 3.2 (−23.6 to 30.0) .03 .81 45 (mean [SD], 148.4 [427.6] in the permethrin group vs 147.6 [272.3] in the placebo group; P = .68) (data not shown). Adverse Events No adverse events were reported in any treated homeless persons. The prevalence of pruritus was reduced in both groups, with no significant differences in the proportion of homeless persons free of pruritus between the permethrin group and the placebo group on day 14 (8 of 32 [25%] vs 6 of 27 [22%]; P = .80), with an odds ratio of 1.16 (95% CI, 0.34–3.91), or on day 45 (8 of 27 [30%] vs 8 of 24 [33%]; P = .77), with an odds ratio of 0.84 (95% CI, 0.25-2.75) in the per-protocol population. The mean (SD) pruritus score at baseline was 2.53 (0.69) in the permethrin group and 2.24 (0.90) in the placebo group. No significant differences were found in the mean reduction in pruritus score from baseline between the permethrin group and the placebo group on day 14 (–0.68 vs –0.28; 95% CI, –0.97 to 0.17; P = .17) and on day 45 (–0.92 vs –0.45; 95% CI, –1.15 to 0.21; P = .17). Permethrin Resistance of Body Lice Of the 34 035 live body lice that were collected, 371 were used to assess permethrin resistance because at least 1 louse per infested homeless persons was selected (see eTable 1 in the Supplement): 187 were collected in study A (91 on day 1 [44 from 18 homeless persons from the permethrin group and 47 from 17 homeless persons from the placebo group] and 96 on day 45 [43 from 8 homeless persons from the permethrin group and 53 from 7 homeless persons from the placebo group]) and 184 in study B (67 on day 1 [32 from 16 homeless persons from the permethrin group and 35 from 14 homeless persons from the placebo group] and 117 on day 45 [56 from 8 homeless persons from the permethrin group and 61 from 8 homeless persons from the placebo group]). JAMA Dermatology Published online December 4, 2013 182 Copyright 2013 American Medical Association. All rights reserved. Downloaded From: http://archderm.jamanetwork.com/ by American Medical Association, June Robinson on 12/30/2013 jamadermatology.com Original Investigation Research Permethrin–Impregnated Underwear Table 3. Evolution of the Permethrin-Resistant Haplotype in Body Lice During the Survey Period Permethrin Haplotype Day 1 Day 45 Placebo P Value Day 1 Day 45 P Value Study A RRR, No./total (%)a RRR, % (95% CI)a,b 17/44 (39) 41.9 (40.4-43.4) 31/43 (72) 67.4 (66.4-68.4) .002 18/47 (38) 17/53 (32) 21.1 (20.8-21.4) 26.2 (25.3-27.0) .51 Study B RRR, No./total (%)a RRR, % (95% CI)a,b 22/32 (69) 77.8 (76.1-79.6) 41/56 (73) 75.0 (74.1-76.0) 18/35 (51) .65 34/61 (56) 56.9 (55.1-58.6) 59.9 (58.8-61.0) .68 Studies A and B RRR, No./total (%)a RRR, % (95% CI)a,b 39/76 (51) 62.8 (61.9-63.7) 72/99 (73) 71.8 (71.3-72.3) .004 36/82 (44) 51/114 (45) 34.3 (33.8-34.9) a Considered permethrin resistant. b Inference based on the subrandom sample of body lice stratified based on the initial infestation level of the individual. 44.8 (44.3-45.4) .90 Table 4. Evolution of the Allele Frequency of the T917I and L920F Mutations in Body Lice During the Survey Period No./Total (%) Permethrin Mutation Day 1 Day 45 Placebo P Value Day 1 Day 45 P Value Study A T917I 18/44 (41) 31/44 (72) .003 21/47 (45) 17/53 (32) .19 L920F 43/44 (98) 43/43 (100) .99 37/47 (79) 53/53 (100) <.001 T917I 22/32 (69) 45/56 (80) .21 18/35 (51) 34/61 (56) .68 L920F 32/32 (100) 56/56 (100) >.99 34/35 (97) 61/61 (100) .77 T917I 40/76 (53) 76/99 (77) .008 39/82 (48) 51/114 (45) .69 L920F 75/76 (99) 99/99 (100) .89 71/82 (87) 114/114 (100) <.001 Study B Studies A and B At baseline, the prevalence of the permethrin-resistant haplotype (Table 3) among the lice collected was 51% in the permethrin group and 44% in the placebo group. On day 45, the permethrin-resistant haplotype was significantly more frequent in the permethrin group than in the placebo group (73% vs 45%; P < .001). At baseline, the prevalence of permethrin-resistant mutations (Table 4) was established as 99% for the L920F mutation and 53% for the T917I mutation in the permethrin group and 87% for the L920F mutation and 48% for the T917I mutation in the placebo group. The prevalence of the T917I mutation increased significantly from baseline to day 45 in the permethrin group (from 53% to 77%; P = .008) but remained stable in the placebo group (from 48% to 45%; P = .69). The prevalence of the L920F mutation increased significantly in the placebo group from baseline to day 45 (from 87% to 100%; P < .001). The prevalence of the M815I mutation was established as 100% for all samples. Discussion In this randomized controlled trial, long-lasting permethrin– treated underwear is more efficient in the elimination of body louse infestations than placebo in the short term (ie, on day 14), but the difference with the placebo was not sustained by jamadermatology.com day 45 and is accompanied by increasing permethrin resistance in body lice collected from homeless persons. Resistance to permethrin has been reported in the head louse Pediculus humanus capitis in many parts of the world.17-20 This is the first trial, to our knowledge, that tests permethrin– impregnated underwear on body lice in sheltered homeless persons, combined with molecular detection of mutations associated with permethrin resistance in body lice. The kdr allele frequency in the body lice population at baseline was unexpectedly high in study A (averaging 38%). The relative ease with which this group of mutations was identified within the modern body louse population may be related to prior exposure to dichlorodiphenyltrichloroethane, which likely involved kdr-like mechanisms in some cases, in a manner similar to the rapid increase of permethrin resistance in the head louse populations shortly after the introduction of synthetic pyrethroids in Europe and worldwide.17-20 Resistance of the body louse to dichlorodiphenyltrichloroethane was reported at the end of the 1940s and early 1950s.21-23 This finding could suggest that, although no resistance to permethrin was reported in the body lice in Western Europe before this study, some lice are currently resistant to pyrethroids through dormant crossresistance attributed to the kdr mechanism. In our study, the increase of the prevalence of the T917I mutation interestingly coincided with the loss of permethrin efficacy. This result is coherent with that obtained in a JAMA Dermatology Published online December 4, 2013 183 Copyright 2013 American Medical Association. All rights reserved. Downloaded From: http://archderm.jamanetwork.com/ by American Medical Association, June Robinson on 12/30/2013 E5 Research Original Investigation Permethrin–Impregnated Underwear previous study16 that concluded that the T917I mutation alone was responsible for most of the target site insensitivity reported in the resistant RRR haplotype. In addition, a recent study 24 reported a prevalence of 5% of the T917I mutation, against 70% for both the M815I and L920F mutations, in an Egyptian head louse population for which selection with pyrethroid-based pediculicides was expected to be low. These findings suggested that head lice may have acquired the M815I and L920F mutations first and then, once these 2 mutations are present, rapidly acquired the T917I mutation, high levels of nerve insensitivity, and resistance after they were again placed under pyrethroid selective pressure, leading to control failure. Our trial had several limitations that merit consideration. First, we believe that head and body lice are transferred among people when they come in close personal contact in the shelter, and thus the resistance to permethrin is also shared. Indeed, of the 11 homeless persons who were free of live body lice on day 14 in the permethrin group, 2 were reinfected on day 45. Moreover, the frequency of the L920F mutation increased significantly from baseline to day 45 in the placebo group in study A, suggesting that L920Fmutated lice had been transferred between the permethrin and placebo groups. ARTICLE INFORMATION Accepted for Publication: June 27, 2013. Published Online: December 4, 2013. doi:10.1001/jamadermatol.2013.6398. Author Contributions: Dr Brouqui had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: Benkouiten, Badiaga, Raoult, Brouqui. Acquisition of data: Benkouiten, Drali, Badiaga, Veracx. Analysis and interpretation of data: Benkouiten, Drali, Giorgi. Drafting of the manuscript: Benkouiten, Drali, Badiaga, Giorgi, Raoult. Critical revision of the manuscript for important intellectual content: Veracx, Raoult, Brouqui. Statistical analysis: Benkouiten, Giorgi. Obtained funding: Brouqui. Administrative, technical, or material support: Benkouiten, Badiaga, Raoult. Study supervision: Benkouiten, Drali, Badiaga, Brouqui. Conflict of Interest Disclosures: None reported. Funding/Support: This study was supported by national grant PHRC 2010 from the French Health Ministry to Dr Brouqui. Role of the Sponsor: The French Health Ministry had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; and preparation, review, or approval of the manuscript; decision to submit the manuscript for publication. Additional Contributions: We thank the homeless individuals who were involved in this study; the medical and pharmacy students, interns and fellows, and researchers of the Unité de Recherche sur les Maladies Infectieuses et Tropicales E6 Second, recent studies25 suggest that head and body lice can be mixed in persons infested with both head and body lice. Whether these lice are conspecific remains controversial,25-30 and although head and body lice do not interbreed in the wild,31 fertile hybrids that have intermediate morphologic characteristics 32 have been reported under laboratory conditions.33,34 Moreover, several observational studies35-38 have also suggested that head lice could become body lice when raised under the laboratory conditions. Third, it appears that only a change of underwear could reduce body lice infestation (equivalent efficiency of placebo at day 45 compared with permethrin). This occurrence would not be expected outside a controlled study. In fact, at the start of this study, the mean number of body lice per homeless persons was high (approximately 450 body lice per subject), and despite the availability of the protocol underwear in shelters, most homeless persons changed their clothes only during scheduled follow-up visits and had not washed them between visits. In conclusion, this trial clearly demonstrates that the use of permethrin–impregnated underwear had the consequence of increasing the percentage of permethrin-resistant body lice in sheltered homeless persons. These findings lead us to recommend avoiding the use of permethrin to treat body lice infestations, although implementing new strategies is crucial. Émergentes; and the infectious diseases specialists for helpful discussions and active participation in the study. We also thank the directors and the staff of the 2 shelters for their assistance. 9. WHO recommended long-lasting insecticidal mosquito nets. http://www.who.int/whopes/Long _lasting_insecticidal_nets_Jul_2012.pdf. Accessed November 19, 2012. Correction: This article was corrected on December 5, 2013, for an error in the first sentence of the Results section of the Abstract. 10. Sholdt LL, Rogers EJ Jr, Gerberg EJ, Schreck CE. Effectiveness of permethrin-treated military uniform fabric against human body lice. Mil Med. 1989;154(2):90-93. REFERENCES 1. Brouqui P, Stein A, Dupont HT, et al. Ectoparasitism and vector-borne diseases in 930 homeless people from Marseilles. Medicine (Baltimore). 2005;84(1):61-68. 2. Raoult D, Roux V. The body louse as a vector of reemerging human diseases. Clin Infect Dis. 1999;29(4):888-911. 3. Badiaga S, Brouqui P. Human louse-transmitted infectious diseases. Clin Microbiol Infect. 2012;18(4):332-337. 4. Izri A, Chosidow O. Efficacy of machine laundering to eradicate head lice: recommendations to decontaminate washable clothes, linens, and fomites. Clin Infect Dis. 2006;42(2):e9-e10. 5. Badiaga S, Raoult D, Brouqui P. Preventing and controlling emerging and reemerging transmissible diseases in the homeless. Emerg Infect Dis. 2008;14(9):1353-1359. 6. Foucault C, Ranque S, Badiaga S, Rovery C, Raoult D, Brouqui P. Oral ivermectin in the treatment of body lice. J Infect Dis. 2006;193(3):474-476. 7. Badiaga S, Foucault C, Rogier C, et al. 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Parasitology. 1919;11:201-221. 37. Alpatov VV, Nastukova OA. Transformation of the head form of Pediculus humanus into the body form under changed conditions of existence. Bull Soc Nat Moscow. 1955;60:79-92. 38. Levene H, Dobzhansky T. Possible genetic difference between the head louse and the body louse. Am Nat. 1959;93:347-353. 30. Khudobin VV. The adaptive potentials of human head and clothes lice when parasitizing on JAMA Dermatology Published online December 4, 2013 185 Copyright 2013 American Medical Association. All rights reserved. Downloaded From: http://archderm.jamanetwork.com/ by American Medical Association, June Robinson on 12/30/2013 E7 Supplementary Online Content Benkouiten S, Drali R, Badiaga S, et al. Effect of Permethrin-Impregnated Underwear on Body Lice in Sheltered Homeless Persons: A Randomized Controlled Trial eTable 1. Stratified random sampling of the levels of body lice infestations eTable 2. Evolution of the mean number of body lice between days 1 and 14 and days 1 and 45 in each subgroup This supplementary material has been provided by the authors to give readers additional information about their work. 186 eTable 1. Stratified random sampling of the levels of body lice infestations Day 1 Day 45 Homeless, No. 33.33 Lice , % 21/404 12/41 Lice tested , No. /total 4 11 5 Homeless, No. 3.75 7.50 15 100 Lice , % 44/2360 56/1485 20/272 47/316 17/17 Lice tested , No./total c Lice , Min–Max 16 5 21/832 6 1.88 b 1–9 19 2.50 44/3554 3 c 10–49 12 1.25 37/5711 29/3099 b 50–99 13 0.63 0.94 a 100–499 8 2 500–999 23/7571 5 0.31 1000–1999 213/7549 31 73 158/18113 Total a Total number of body lice per homeless person Percentage of body lice drawn per homeless person Number of body lice tested b c Lice, No. (%) 269.5 (431.0) 7545 (100) 278.3 (472.7) 8907 (100) Day 1 104 (202.1) 2912 (38.6) 176.1 (500.9) 5460 (61.3) Day 45 P Value 0.001 0.001 253.3 (440.8) 6078 (100) 308.8 (502.8) 8339 (100) Day 1 147.6 (272.3) 3542 (58.3) 148.4 (427.6) 4008 (48.1) Day 45 eTable 2. Evolution of the mean number of body lice between days 1 and 14 and days 1 and 45 in each subgroup Permethrin Lice, Mean (SD) Lice, No. (%) Lice, Mean (SD) Total number of body lice per homeless person Placebo a P Value 0.001 0.04 187 Conclusions et perspectives Cette thèse s’inscrit dans la continuité des nombreux travaux sur le pou humain réalisés à l’URMITE au sein des équipes dirigées par le Professeur Didier Raoult, un pourvoyeur essentiel des connaissances scientifiques dans ce domaine durant les vingt dernières années. A travers cette thèse, nous avons pu répondre à certaines questions concernant les poux humains restées en débat depuis longtemps. Ainsi, nous avons mis en place un outil moléculaire qui permet de différencier pour la première fois entre le pou de tête et le pou de corps du clade mitochondrial le plus distribué à travers le monde (Clade A). Un outil qui a démontré son utilité sur le terrain notamment pour déterminer le génotype des poux infectés par des pathogènes. Nous avons mis en évidence l’existence d’un nouveau clade mitochondrial, le Clade D renfermant des poux de tête et des poux de corps susceptibles de vectoriser B. quintana et Y. pestis. Nous avons mis en place un système pour pouvoir retracer les migrations des humains et des pathogènes à travers l'analyse de poux anciens provenant de différentes périodes et de différentes localisations. Nous avons démontré que P. mjobergi était à l’origine un pou humain qui a été transféré aux primates du Nouveau Monde par les premiers 189 Hommes à avoir atteint le continent américain il y a des milliers d’années. Cela fût possible grâce aux premières analyses génétiques effectuées sur P. mjobergi. Nous avons mis en place un outil de détection et de contrôle de la résistance moléculaire des poux à la perméthrine. Outil qui fût particulièrement utile dans l'étude clinique que nous avons menée pour déterminer si l'utilisation de sousvêtements imprégnés d'insecticide offrait une protection efficace à long terme contre les poux de corps infestant les personnes sans-abri. Durant cette thèse, j’ai eu la chance d’accéder à un matériel biologique d’une rareté exceptionnelle, et comme on l’a constaté, dans chacune des thématiques où ce matériel fut impliqué, les résultats obtenus étaient surprenants. A l’ère du séquençage à haut débit, il serait très intéressant de séquencer le maximum de poux provenant de différents endroits à travers le monde pour effectuer une analyse globale des génomes. Ce qui permettra d’en savoir un peu plus sur l’odyssée de l’espèce humaine et des pathogènes vectorisés par les poux. Car comme on le soupçonne, ces informations doivent être enregistrées et bien gardées par le plus intimes de nos parasites. 190 Références 1. 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JAMA Dermatol 150: [pii];10.1001/jamadermatol.2013.6398 [doi]. 199 273-279. 1782130 Annexes 201 Article X: Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry for Rapid Identification of Tick Vectors Journal of Clinical Microbiology, 51(2), 522-528. 203 Matrix-Assisted Laser Desorption Ionization −Time of Flight Mass Spectrometry for Rapid Identification of Tick Vectors Amina Yssouf, Christophe Flaudrops, Rezak Drali, Tahar Kernif, Cristina Socolovschi, Jean-Michel Berenger, Didier Raoult and Philippe Parola J. Clin. Microbiol. 2013, 51(2):522. DOI: 10.1128/JCM.02665-12. Published Ahead of Print 5 December 2012. These include: REFERENCES CONTENT ALERTS This article cites 32 articles, 4 of which can be accessed free at: http://jcm.asm.org/content/51/2/522#ref-list-1 Receive: RSS Feeds, eTOCs, free email alerts (when new articles cite this article), more» Information about commercial reprint orders: http://journals.asm.org/site/misc/reprints.xhtml To subscribe to to another ASM Journal go to: http://journals.asm.org/site/subscriptions/ 205 Downloaded from http://jcm.asm.org/ on October 24, 2014 by guest Updated information and services can be found at: http://jcm.asm.org/content/51/2/522 Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry for Rapid Identification of Tick Vectors Amina Yssouf,a Christophe Flaudrops,b Rezak Drali,a Tahar Kernif,a Cristina Socolovschi,a Jean-Michel Berenger,a Didier Raoult,a Philippe Parolaa Aix Marseille Université, Unité de Recherche en Maladies Infectieuses et Tropicales Emergentes, UM63, CNRS 7278, IRD 198, Inserm 1095, WHO Collaborative Center for Rickettsioses and Other Arthropod Borne Bacterial Diseases, Faculté de Médecine, Marseille, Francea; Assistance Publique des Hôpitaux de Marseille, CHU Timone, Pôle Infectieux, Marseille, Franceb T icks are obligate hematophagous parasites of the order Acari. These arthropods can feed on every known class of vertebrate and can bite people (1). Ticks are currently the second leading vector of human infectious diseases and can carry bacterial (1), viral (1a), and protozoan pathogens (2). However, only in 1982, with the identification of Borrelia burgdorferi as the etiological agent of Lyme disease, was the major effect of ticks on public health recognized, leading to an increased awareness of tick-borne diseases (3). Since then, more than 15 tick-borne rickettsioses have emerged throughout the world (4). The removal of a tick from the human body is a common situation, and patients may visit a physician with an attached or removed tick. Certain tick species are well-known vectors of human diseases, such that identifying the species, which will alert the physician to the diseases that may have been transmitted, is clinically helpful if such information is obtained quickly (1). Indeed, recent studies confirm that the use of doxycycline prophylaxis following an Ixodes tick bite is useful for the prevention of Lyme disease (4). Similar postexposure regimens could also prevent tick-borne relapsing fever in areas of endemicity (5). However, for prophylactic treatment to be effective, it must be delivered shortly after potentially infectious ticks are removed from patients (6). Ticks species can be morphologically identified using taxonomic keys for endemic species in several geographic regions (1). However, morphological identification can be difficult because it requires some entomological expertise, and it is difficult to identify a specimen that is damaged or at an immature stage of its life cycle (1). Molecular methods, such as the sequencing of the mitochondrial 12S (7), 18S (8), and 16S ribosomal DNAs (rDNAs) (7), mitochondrial cytochrome oxidase subunit 1 (COX1), and nu- 522 jcm.asm.org clear internal transcribed spacer 2 (ITS2), have been developed to identify arthropods, including ticks (9). However, there is currently no PCR assay that can distinguish tick species, and ideal PCR primer pairs that can amplify the relevant gene fragments are not available. In addition to the technical and logistical drawbacks of PCR assays, this approach is further limited by the availability of gene sequences in GenBank. Protein profiling by matrix-assisted laser desorption ionization–time of flight mass spectrometry (MALDITOF MS) is now increasingly common for the routine identification of microorganisms in clinical microbiology (10). This revolutionary, reliable, and cost-effective technique is simpler and faster than conventional phenotypic and molecular methods for the identification of human pathogens (10). The MALDI-TOF MS approach was first applied to arthropods for the differentiation of Drosophila species (11). It was found that protein extracts obtained from whole specimens generated reproducible spectra (11). Species-specific protein profiles have also been be used to differentiate three species of aphids (insects that feed on plants) (12). In 2011, a blind test in which 111 wild specimens were compared to the database profiles of Culicoides species Received 4 October 2012 Returned for modification 25 October 2012 Accepted 18 November 2012 Published ahead of print 5 December 2012 Address correspondence to Philippe Parola, philippe.parola@univ-amu.fr. Copyright © 2013, American Society for Microbiology. All Rights Reserved. doi:10.1128/JCM.02665-12 Journal of Clinical Microbiology p. 522–528 206 February 2013 Volume 51 Number 2 Downloaded from http://jcm.asm.org/ on October 24, 2014 by guest A method for rapid species identification of ticks may help clinicians predict the disease outcomes of patients with tick bites and may inform the decision as to whether to administer postexposure prophylactic antibiotic treatment. We aimed to establish a matrix-assisted laser desorption ionization–time of flight mass spectrometry (MALDI-TOF MS) spectrum database based on the analysis of the legs of six tick vectors: Amblyomma variegatum, Rhipicephalus sanguineus, Hyalomma marginatum rufipes, Ixodes ricinus, Dermacentor marginatus, and Dermacentor reticulatus. A blind test was performed on a trial set of ticks to identify specimens of each species. Subsequently, we used MALDI-TOF MS to identify ticks obtained from the wild or removed from patients. The latter tick samples were also identified by 12S ribosomal DNA (rDNA) sequencing and were tested for bacterial infections. Ticks obtained from the wild or removed from patients (R. sanguineus, I. ricinus, and D. marginatus) were accurately identified using MALDI-TOF MS, with the exception of those ticks for which no spectra were available in the database. Furthermore, one damaged specimen was correctly identified as I. ricinus, a vector of Lyme disease, using MALDI-TOF MS only. Six of the 14 ticks removed from patients were found to be infected by pathogens that included Rickettsia, Anaplasma, and Borrelia spp. MALDI-TOF MS appears to be an effective tool for the rapid identification of tick vectors that requires no previous expertise in tick identification. The benefits for clinicians include the more targeted surveillance of patients for symptoms of potentially transmitted diseases and the ability to make more informed decisions as to whether to administer postexposure prophylactic treatment. MALDI-TOF MS Identification of Ticks TABLE 1 Arthropods used to establish the reference database of MALDI-TOF spectra and arthropods used in the blind test No. of specimens used to create the database No. of specimens used for the blind test procedure Sourcea Total Sex and/or stageb Total (score range) Sex and/or stageb LC LC Vegetation Vegetation LC LC LC LC Vegetation Animal Vegetation 18 10 6 M, 5 F, 7 N 5 M, 5 F 10 10 12 7 5 M, 5 F 5 M, 6 F 6 M, 6 F N Rhipicephalus sulcatus Haemaphysalis concinna Senegal France France France France Croatia Senegal France France Senegal France 2 (2.248–2.357) 2 (1.995- 2.135) 3 (1.715–1.745) 2 (1.701–1.884) 2 (2.232–2.519) 3 (2.119- 2.281) 2 (1.992–2.352) 2 (1.706–1.831) 7 (1.304–1.878) 2 (1.009–1.166) 2 (0.838–1.062) 1 M, 1F 1 M, 1 F M F 1 M, 1 F 1 M, 2 F 1 M, 1 F 1 M, 1 F 3 M, 2 F, 2 N 1 M, 1 F 1 M, 1 F Other arthropods Ctenocephalides felis Pediculus humanus corporis Triatoma infestans Cimex lectularius Culex pipiens Apis mellifera Pyrrhocoris apterus Blaptica dubia Tenibrio molitor England USA Bolivia France France France France India France LC LC LC LC LC Field Field Field Field 17 12 12 12 7 11 F, 6 M 7 M, 6 F 6 M, 6 F 6 M, 6 F F 2 (2.103–2.123) 2 (1.788–1.797) 2 (1.733–1.779) 2 (2.145–2.429) 2 (1.655–1.749) 2 (0.732–0.778) 2 (0.759–0.998) 2 (0.707–1.066) 2 (0.755–0.958) 1 M, 1 F 1 M, 1 F 1 M, 1 F 1 M, 1 F F 1 M, 1 F 1 M, 1 F 1 M, 1 F 1 M, 1 F Arthropod for database Ticks Amblyomma variegatum Rhipicephalus sanguineus Dermacentor marginatus Dermacentor reticulatus Hyalomma marginatum rufipes Ixodes ricinus a b LC, laboratory colonies. M, male; F, female; N, nymph stage. showed that MALDI-TOF MS can differentiate species of Culicoides biting midges collected in the field (13). More recently, a MALDI-TOF MS study of seven ticks reported that whole ticks or body parts, excluding the legs, generate spectra that are sufficient for species identification (14). The objective of the present study was to investigate the use of MALDI-TOF MS for the rapid differentiation of tick species using only their legs. Our goals were to establish a reference database, to evaluate the MALDI-TOF MS-based identification system in a blind test, and to evaluate this new identification tool using ticks removed from patients. MATERIALS AND METHODS Arthropods. To establish a reference database, we used laboratory-reared hard ticks, fleas, lice, triatomines, mosquitoes, and bedbugs (Table 1). All specimens were fresh and nonengorged and maintained at room temperature for less than 1 week postmortem. The tick specimens included Amblyomma variegatum, Hyalomma marginatum rufipes, Rhipicephalus sanguineus, Ixodes ricinus, Dermacentor marginatus, and Dermacentor reticulatus. For the blind test, other specimens of the same species and specimens of other arthropod families were used as controls. Starved ticks collected in the field or removed from animals were characterized by MALDI-TOF MS (Table 1). A total of 14 ticks removed from 14 patients in France from June to August 2012 were morphologically characterized using standard taxonomic keys as D. marginatus, R. sanguineus, I. ricinus, Rhipicephalus sp., and Ixodes sp. (Table 2). One extensively damaged hard tick removed from a patient was also tested. After the morphological identification procedure, four legs were removed for MALDI-TOF MS (see below) and sequencing assays. DNA was extracted from tick body halves, and a 360-bp fragment of the mitochondrial 12S rDNA sequence was amplified by PCR and sequenced (14a). The sequences were analyzed using ChromasPro, version 1.34 (Technelysium Pty, Ltd., Tewantin, February 2013 Volume 51 Number 2 Queensland, Australia), and were compared with sequences from GenBank. The unused tick body parts were stored at �80°C for subsequent analyses. MALDI-TOF procedure. (i) Preparation of samples. Each specimen was placed in a 1.5-ml microcentrifuge tube and immobilized or anesthetized at �20°C for 30 min (11). Subsequently, the specimens were rinsed once with distilled water. After the specimens were dried with paper, four legs were removed with scalpels. One of two different homogenization solutions was used depending on the specimen’s size (11). The tick legs were manually homogenized in 60 �l of 70% formic acid and 60 �l of 50% acetonitrile in 1.5-ml microcentrifuge tubes using pellet pestles (Fischer Scientific). The legs of mosquitoes, fleas, and lice were also homogenized in 20 �l of formic acid and 20 �l of acetonitrile. Triatomine legs were homogenized in 100 �l of 70% formic acid and 100 �l of 50% acetonitrile. All homogenates were centrifuged at 10,000 rpm for 20 s, and 1 �l of each supernatant was spotted onto a steel target plate (Bruker Daltonics) in quadruplicate (13). One microliter of a CHCA matrix suspension composed of saturated �-cyano-4-hydroxycinnamic acid (Sigma), 50% acetonitrile, 10% trifluoroacetic acid, and high-performance liquid chromatography (HPLC)-grade water was directly spotted onto each sample on the target plate to allow cocrystallization (15). The target plate was dried for several minutes at room temperature before insertion into the MALDI-TOF MS instrument. (ii) MALDI-TOF MS parameters. Protein mass profiles were acquired using a Microflex MALDI-TOF mass spectrometer (Bruker Daltonics) with Flex Control software (Bruker Daltonics). We performed measurements in the linear positive-ion mode (15) between 2 and 20 kDa, and each spectrum corresponded to ions obtained from 240 laser shots performed in six regions of the same spot. The obtained spectra were processed using Flex Analysis, version 3.3, and MALDI Biotyper, version 3.0, software. (iii) Spectral analysis and reference database creation. To study the reproducibility of the species spectra, the average spectral profiles ob- 207 jcm.asm.org 523 Downloaded from http://jcm.asm.org/ on October 24, 2014 by guest Geographical origin Yssouf et al. TABLE 2 Identification of ticks removed from patients using morphological, MALDI-TOF MS, and molecular methods and the results of the detection of Rickettsia, Borrelia, Anaplasma, and Bartonella DNA Molecular identification (% similarity with the indicated GenBank sequence) of:a Morphological identification MALDI-TOF MS identification (score) Ticke D. marginatus D. marginatus D. marginatus R. sanguineus I. ricinus Damaged I. ricinus Rhipicephalus sp. Ixodes sp. Rhipicephalus sp. I. ricinus I. ricinus I. ricinus D. marginatus (1.83) D. marginatus (1.798) D. marginatus (1.799) R. sanguineus (1.957) I. ricinus (1,737) I. ricinus (1,376) I. ricinus (1.321) Not identifiedb I. ricinus (1.308) R. sanguineus (2.117) I. ricinus (1.728) I. ricinus (1.823) I. ricinus (1.641) D. marginatus (99.3% AM410570.1) D. marginatus (99.4% AM410570.1) D. marginatus (99.4% AM410570.1) R. sanguineus (99.1% JX206975.1) I. ricinus (99.5% JN248424.1) Not obtainedc I. ricinus (99.3% JN248424.1) R. bursa (100% AM410572.1) I. ricinus (99.2% JM248424.1) R. sanguineus (99.2% AY559843.1) I. ricinus (99.7% JN248424.1) I. ricinus (99.2% JN248424.1) I. ricinus (99.06% AY945481.1) I. ricinus D. marginatus D. marginatus D. marginatus I. ricinus (1.668) D. marginatus (1.83) D. marginatus (1.798) D. marginatus (1.799) I. ricinus (100% JN248424.1) D. marginatus (99.3% AM410570.1) D. marginatus (99.4% AM410570.1) D. marginatus (99.4% AM410570.1) Bacteria R. slovacad, R. raoultiid R. massiliaed B. garinii (99.7% JN828689.1) R. conoriid A. phagocytophilumd R. slovacad, R. raoultiid R. massiliaed a DNA extracted from laboratory colonies of uninfected ticks was used as a negative control. DNA extracted from Rickettsia montanensis, Bartonella elizabethae, Borrelia crocidurae, and Anaplasma phagocytophilum was used as a positive control. No R. bursa spectrum was available in our MALDI-TOF MS database. c After two attempts. d qPCR. e By 12S RNA sequencing. b tained from the four spots for each specimen of the same species were analyzed and compared using the ClinProTools, version 2.2, program (Bruker Daltonics). Using MALDI Biotyper, version 3.0, a database containing the studied arthropod groups was assembled from at least five specimens of each sex for all of the studied arthropod species, excluding mosquitoes, for which the majority of tested specimens were females. The reproducible spectra were used in the database. (iv) Study validation using a blind test and identification of ticks from the field and patients. An intercomparison of the reference spectra of each species was performed to interrogate the database (14, 16). The “start identification” function in the MALDI Biotyper allows the identification of each specimen to be tested, and the results were presented as log score values. A blind test was then performed with specimens from our laboratory colonies for which there were corresponding reference spectra in our database. For each species, two new specimens were used. We also tested two specimens of arthropods not included in our database, including bees, firebugs, roaches, and beetles. Identification scores were obtained for each spectrum of the tested sample. All ticks collected in the field and removed from patients were tested against the database. When each tick was tested, particular attention was paid to determine if the spectral profile matched profiles for the reference samples of the same sex as the specimen. The Mantel Haenszel test (Epi Info, version 7, program) was used to evaluate the quality of the sex identification. (v) Cluster analysis. We performed hierarchical clustering of the mass spectra of all tested species that were present in or absent from the database using the mean spectrum projection (MSP) dendrogram function of MALDI Biotyper, version 3.0. The objective was to determine whether the ticks could be clustered using this approach. Molecular detection of bacteria in ticks removed from patients. All DNA samples of ticks removed from patients were screened for Rickettsia spp. by quantitative real-time PCR (qPCR) analysis of a fragment of the gltA gene (17). To screen for Bartonella spp., an internally transcribed spacer was targeted, whereas a fragment of the 16S rRNA gene was targeted for Borrelia spp. (18). Rickettsia massiliae-specific qPCR and Rickettsia conorii-specific qPCR were performed on positive Rhipicephalus 524 jcm.asm.org sanguineus DNA samples (19). Rickettsia slovaca- and Rickettsia raoultiispecific qPCRs were performed on positive Dermacentor DNA samples (17). Borrelia-positive samples were confirmed by Borrelia-specific qPCR amplification of the internal transcribed spacer (ITS) (19), and identification was performed by sequencing a 750-bp gene fragment of the flaB gene (20). RESULTS MALDI-TOF MS spectrum analysis and database assembly. A total of 120 arthropod specimens, including 67 ticks representing six species, were subjected to MALDI-TOF MS analysis. The protein spectral profiles of all tested arthropod species were very similar between specimens of the same species within the mass range of 2 to 20 kDa, and the signal intensities were very strong. The alignment of the spectra of several specimens of the same species showed that the major identified protein peaks were present in each specimen of the same species (Fig. 1). The analysis in ClinProTools of the tick protein profiles yielded spectra comprising between 60 and 136 peaks in the mass range of 2 to 20 kDa, with an average of 106 peaks per spectrum. The spectra corresponding to the legs of other arthropods (Culex pipiens, Triatoma infestans, Ctenocephalides felis, Pediculus humanus, and Cimex lectularius) comprised 47 to 64, 94 to 120, 75 to 93, 46 to 76, and 87 to 132 peaks, respectively, in the mass range of 2 to 20 kDa. The spectra for each species of ticks were shown to be reproducible (Fig. 2) for all tested groups after spectral analysis and alignment. This reproducibility was observed for both the male and female specimens. Subsequently, a database was created and loaded with all of the spectra for these species. Study validation using a blind test. Querying spectra in the database yielded satisfactory results, with scores between 2.224 and 2.764. The blind test of the reference database, in which two 208 Journal of Clinical Microbiology Downloaded from http://jcm.asm.org/ on October 24, 2014 by guest Incompletely described bacterium (97.6% AY776167.1), B. miyamotoi (100% FJ874925.1) MALDI-TOF MS Identification of Ticks specimens of each of the six tick species maintained in the laboratory as well as the remaining arthropod groups were assayed, successfully identified all species groups. The majority (69%) of specimens were identified to the species level with scores of �2. All specimens tested had spectra that matched the reference spectra with scores between 1.749 and 2.519. The spectra of bees, firebugs, roaches, and beetles, for which references were not included in the database, scored lower, between 0.778 and 1.066. Regarding the sex of the specimen, it was not possible to definitively discriminate male and female ticks based on their MS spectra. However, the FIG 2 Comparison of the A. variegatum spectral profiles to assess reproducibility and to identify an A. variegatum specimen. (A) Alignment of the spectra of several specimens of A. variegatum (gel view) showing that the major identified protein peaks were present in each specimen of this species. Arb u, arbitrary units. (B) Average peak list for the A. variegatum spectral profiles. (C) Results obtained for the blind testing of an A. variegatum specimen against the database using MALDI Biotyper, version 3.0, software (correct identification with a score of 2.357). February 2013 Volume 51 Number 2 209 jcm.asm.org 525 Downloaded from http://jcm.asm.org/ on October 24, 2014 by guest FIG 1 Matrix-assisted laser desorption ionization–time of flight (MALDI-TOF) mass spectral profiles for the legs of different tick species. (A) Hyalomma (Hy) marginatum rufipes male and female. (B) Rhipicephalus (Rh) sanguineus male and female in the range of 2 to 20 kDa. Intens, signal intensity; au, arbitrary units. Yssouf et al. ticks’ spectral profiles more frequently matched those of the correct sex than the incorrect sex, with 16/22 (72%) matches for males and 19/29 (65%) matches for females (P � 0.007). MALDI-TOF MS using ticks from the field and patients. The field-collected ticks for which the species were represented in the database (I. ricinus and R. sanguineus) were identified correctly by MALDI-TOF MS (scores of �1.8). R. sulcatus and Haemaphysalis concinna ticks from the field (absent from our MALDI-TOF MS database) did not match any known spectra. Eleven morphologically identified adult ticks (I. ricinus, R. sanguineus, and D. marginatus) removed from patients were correctly identified by MALDI-TOF MS (identification scores between 1.321 and 2.117). An Ixodes sp. nymph removed from a patient was identified as I. ricinus using MALDI-TOF MS. Additionally, the tick that was extensively damaged was identified as I. ricinus based on its four spectra, with a score of 1.376. However, one specimen (Rhipicephalus sp.) removed from a patient could not be identified by MALDI-TOF MS, as the spectrum did not match that of any specimens in the database. For the phylogenetic analysis, we performed hierarchical clustering of the mass spectra of different species of tested ticks that were present in or absent from our reference database. In the generated dendrogram, specimens of the same tick species, including R. sanguineus, I. ricinus, and D. marginatus from the laboratory, field, and patients, clustered together with the exception of one specimen (Fig. 3). Molecular identification of ticks and the detection of bacteria. 12S gene sequencing was performed on 13 of 14 specimens removed from patients. The results corroborated those obtained by morphological analysis and MALDI-TOF MS for most samples (Table 1). R. sulcatus and H. concinna collected from the field were 526 jcm.asm.org not identified by MALDI-TOF MS (no reference spectra in our database). After two attempts, we were unable to obtain a highquality 12S RNA gene sequence for the damaged tick that was removed from a patient. This specimen was identified as I. ricinus by MALDI-TOF MS. Finally, the tick that was morphologically identified as Rhipicephalus sp. and was not identified by MALDITOF MS was identified by sequencing as Rhipicephalus bursa (100% agreement with AM410572 in GenBank), for which no spectrum was available in the MALDI-TOF database. Six of the 14 ticks removed from patients were found to be infected by bacteria, including Rickettsia massiliae, R. conorii, R. slovaca, R. raoultii, Borrelia garinii, Borrelia miyamotoi, and Anaplasma phagocytophilum (Table 1). DNA sequences closely related to those of an incompletely described bacterium (21) were also detected in one specimen of I. ricinus. DISCUSSION Although other factors should be considered, the identification of ticks that have bitten or been removed from patients is the first step in assessing the risk of infection (1). In this study, all ticks removed from patients were potential vectors of pathogens that depend on the involved tick species for propagation. In Europe, D. marginatus is one of the primary vectors of R. slovaca and R. raoultii, two spotted fever group rickettsiae responsible for tick-borne lymphadenopathy (TIBOLA), also called Dermacentor-borne necrosis erythema and lymphadenopathy (DEBONEL) or SENLAT, which is defined as scalp eschar and neck lymphadenopathy after a tick bite (21a). I. ricinus is a major vector of several bacterial agents, including the causative agent of Lyme borreliosis, Borrelia garinii (3), B. miyamotoi, which causes relapsing fever (21b), A. 210 Journal of Clinical Microbiology Downloaded from http://jcm.asm.org/ on October 24, 2014 by guest FIG 3 Dendrogram obtained by cluster analysis of spectra obtained from laboratory-reared ticks, field-collected ticks, and ticks removed from patients. The ticks were analyzed using MALDI Biotyper software. M, male; F, female; N, nymph; L, ticks from laboratory colonies; F, ticks collected in the field; P, ticks collected from patients. MALDI-TOF MS Identification of Ticks February 2013 Volume 51 Number 2 results of the MALDI-OF MS analysis of arthropod specimens. To expand our database, we will test a large number of tick species. Some species are available in collections. However, it seems that long-term storage in 70% ethanol reduces the reproducibility of the MALDI-TOF MS spectra (13, 25). It will also be useful to evaluate the use of MALDI-TOF MS for the identification of frozen specimens. In conclusion, we showed in this study that MALDI-TOF MS is an efficient approach for the rapid identification of tick vectors. This method was used for the first time to identify ticks removed from patients. The results were obtained rapidly relative to the time required for molecular methods, and the completion of this assay does not require any specific entomological expertise. One damaged tick removed from a patient was successfully identified using MALDI-TOF MS as I. ricinus, a vector of Lyme disease. The knowledge of the tick species can be used to inform the clinician’s decision as to whether to prescribe prophylactic doxycycline treatment. At the very least, the identity of the tick species can tell physicians which specific clinical signs they should look for in their patients. The rapid identification of ticks, and most likely of other arthropod vectors, is now possible in any laboratory with a MALDI-TOF MS system. In our unit, results are now available for clinicians in less than 1 h, with no requirement for entomological expertise. Our database contains reference spectra for ticks removed from humans in our area. This database can be shared and used directly by any clinical microbiology laboratory equipped with a MALDI Biotyper system. Because MALDI-TOF studies with bacteria and yeast have demonstrated significant variation in the protein profile based on geographical region (27), it will be interesting to test ticks of the same species from a variety of geographical regions to determine if this technique can be used as a regional or global tool. We will continue to add new reference spectra to our database to test the ability of this MS method to discriminate closely related species and to define a definitive cutoff score for species identification. Finally, it will be informative to determine whether MALDI-TOF MS can be used to identify not only tick vectors but also the microorganisms with which the ticks are infected. ACKNOWLEDGMENTS We thank Arnaud Canet for providing ticks collected in the field, Nicolas Armstrong for technical assistance, and Guillaume Lacour for providing mosquito specimens. REFERENCES 211 1. Parola P, Raoult D. 2001. Ticks and tickborne bacterial diseases in humans: an emerging infectious threat. Clin. Infect. Dis. 32:897–928. 1a.Hubalek Z, Rudolf I. 2012. Tick-borne viruses in Europe. Parasitol. Res. 111:9 –36. 2. Gray J, Zintl A, Hildebrandt A, Hunfeld KP, Weiss L. 2010. Zoonotic babesiosis: overview of the disease and novel aspects of pathogen identity. Ticks Tick-Borne Dis. 1:3–10. 3. Stanek G, Wormser GP, Gray J, Strle F. 2012. Lyme borreliosis. Lancet 379:461– 473. 4. Parola P, Paddock CD, Raoult D. 2005. Tick-borne rickettsioses around the world: emerging diseases challenging old concepts. Clin. Microbiol. Rev. 18:719 –756. 5. Balicer RD, Mimouni D, Bar-Zeev Y, Levine H, Davidovitch N, Ankol OH, Zarka SS 2010. Post exposure prophylaxis of tick-borne relapsing fever. Eur. J. Clin. Microbiol. Infect. Dis. 29:253–258. 6. Piesman J, Hojgaard A. 2012. Protective value of prophylactic antibiotic treatment of tick bite for Lyme disease prevention: an animal model. Ticks Tick-Borne Dis. 3:193–196. jcm.asm.org 527 Downloaded from http://jcm.asm.org/ on October 24, 2014 by guest phagocytophilum, the causative agent of human granulocytic anaplasmosis (22), and Rickettsia helvetica, an emerging pathogen (4). Rhipicephalus sanguineus, the brown dog tick, is a primary vector of Rickettsia conorii, the causative agent of life-threatening Mediterranean spotted fever (23), Rickettsia rickettsii is the vector of Rocky Mountain spotted fever in southern regions of the United States (23a), and R. massiliae is an emerging pathogen (23b). Rhipicephalus bursa is a known vector of several cattle parasites as well as a putative vector of Crimean-Congo hemorrhagic fever in certain regions of the world, such as Turkey (24). The potential for these ticks to transmit disease agents was illustrated in this study by the detection of several pathogens in the ticks that had bitten patients. This finding highlights the clinical need for the species identification of ticks. Our results suggest that the MALDI-TOF MS spectra of protein extracts from tick legs are a suitable tool for identifying ticks. The results obtained using this method corroborated those from morphological and molecular identification methods. Overall, 63% of the laboratory tick specimens were identified by MALDI-TOF MS with scores of �2, which are considered to be reliable scores for the identification of bacterial species (15). Ticks collected in the field or removed from patients were reliably identified with lower score values, but each specimen’s spectrum matched a reference spectrum. Only one tick was not identified by MALDI-TOF MS, R. bursa (identification confirmed by 12S sequencing). This tick was not identified because the corresponding spectrum was not present in our database. The species not represented in our database, which were tested as controls (fleas, mosquitoes, bugs, bees, and beetles), had low scores, less than 1.1, and none of their spectra matched the reference spectra in the database. The establishment of a cutoff score for accurate identification would be ideal. When ticks removed from patients were tested, most (76%) were identified with scores of �1.7, and all were identified with scores of �1.3. However, it is not known if a score of 1.3 can be used as a definitive cutoff in other regions. The ticks used to construct the database are representative of the tick species in France and correspond to the species that have been removed from French patients, including returned travelers, and sent to our reference centers in the past 15 years (P. Parola, unpublished observations). In addition, the vectors included in this study are not closely related, and it must be confirmed that this MALDI-TOF MS method can differentiate closely related species, e.g., Ixodes species. However, when D. marginatus specimens removed from patients were tested against the database, which contained reference spectra for this species and for the closely related species D. reticulatus, the identification of the specimens was unequivocal. Using the MSP dendrogram function of MALDI Biotyper, version 3.0, all but one tick (R. bursa) clustered according to their genera, species, and strain. A similar discrepancy was observed in a preliminary study using the entire body of the tick (14). Therefore, although MALDI-TOF MS has opened new doors for the phylogenetic study of arthropods and bacteria, additional data are still needed, and detailed studies should be conducted. Contrary to a recent report (14), we found that the use of tick legs appears to be an effective means to identify tick vectors if a reference database is available. The remainder of the body can be reserved for other purposes, such as the detection of pathogens, as performed in this study. However, various storage conditions (10, 25) and chemical extraction methods (26) appear to influence the Yssouf et al. 528 jcm.asm.org 19. Socolovschi C, Reynaud P, Kernif T, Raoult D, Parola P. 2012. Rickettsiae of spotted fever group, Borrelia valaisiana, and Coxiella burnetii in ticks on passerine birds and mammals from the Camargue in the south of France. Ticks Tick-Borne Dis. 3:355–360. 20. Assous MV, Wilamowski A, Bercovier H, Marva E. 2006. 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Classification and identification of bacteria by mass spectrometry and computational analysis. PLoS One 3:e2843. doi:10.1371 /journal.pone.0002843. 17. Bechah Y, Socolovschi C, Raoult D. 2011. Identification of rickettsial infections by using cutaneous swab specimens and PCR. Emerg. Infect. Dis. 17:83– 86. 18. Parola P, Diatta G, Socolovschi C, Mediannikov O, Tall A, Bassene H, Trape JF, Raoult D. 2011. Tick-borne relapsing fever borreliosis, rural Senegal. Emerg. Infect. Dis. 17:883– 885. Mini review: Typhus in World War I Microbiology today 41 (2), 68 – 71. 213 Ty p h u s in World War I Fig. 1. Coloured electron micrograph of a bacterium of the genus Rickettsia. CNRI/Science Photo Library Rezak Drali, Philippe Brouqui & Didier Raoult Epidemic typhus has always accompanied disasters striking humanity. Famine, cold and wars are its best allies. Typhus, also known as historical typhus, classic typhus, sylvatic typhus, red louse disease, louse-borne typhus, and jail fever has caused mortality and morbidity through the centuries, and on the Eastern Front during World War I it led to the death of thousands. 68 Microbiology Today May 14 | www.sgm.ac.uk 215 T he original description of typhus is thought to have been made in 1546 by Fracastoro, a Florentine physician, in his treatise of infectious diseases: De contagione et contagiosis morbis. His observations during the Italian outbreaks in 1505 and 1528 allowed him to separate typhus from the other pestilential diseases. It also recognised the transmission of typhus (a) (b) from human-to-human. The term ‘exanthematic typhus’ was introduced in 1760 by the French physician, Boissier de Sauvages. Thanks to PCR testing of dental pulp from ancient remnants of bodies from graves, we now have evidence that typhus and trench fever were involved in the decimation of the besiegers of Douai, 1710–1712, during the War of the Spanish Succession, and afflicted the soldiers of Napoleon’s Grand Army in Vilnius in 1812 after their retirement from Russia (Table 1). In 1909, epidemic typhus was found to be transmitted by Pediculus humanus humanus, the body louse, by Charles Nicolle, and he received a Nobel Fig. 2. R. prowazekii-infected (a) or uninfected (b) dead P. humanus humanus. The louse infected with R. prowazekii became red and developed rectal bleeding before dying. Reproduced from Houhamdi, L. & others (2002), J Infect Dis 186, 1639–1646; license no. 3337041496430; Oxford University Press Prize in 1928 for his findings. Nicolle was able to transmit the typhus from humans to chimpanzees and then to macaques through blood transmission and, finally, from macaque to macaque via a body louse. Between 1903 and 1908, Ricketts identified Rickettsia rickettsii (Fig. 1), the agent of spotted fever that is closely related to the agent of typhus. In 1910, he contracted typhus and died in Mexico while conducting his experiments. In 1914, von Prowazek in turn died Table 1. Potential typhus outbreaks through the history of mankind Period Outbreak Probability 15th century Conquest of Granada Likely Other possible disease 16th century Mexico Likely 16th century Hungarian disease Likely 1710–1712 War of Spanish Succession Proven Trench fever 1812 Napoleonic Wars Proven Trench fever 1914–1918 World War I (Russia, Europe) Proven Trench fever 1917–1925 Bolshevik Revolution (Russia) Proven Other louse-borne 1940–1945 World War II (Europe, North Africa) Proven Trench fever 1997 Burundi Civil War (Central Africa) Proven Trench fever Smallpox (France, Europe) (Vilnius, Eastern Europe) diseases from typhus after confirming Ricketts’ observations. In 1916, Rocha Lima described the bacterium and named it Rickettsia prowazekii in honour of Ricketts and Prowazek. Body lice infected by R. prowazekii become red and die shortly thereafter (Fig. 2). Humans are the principal reservoir of typhus during outbreaks. However, a zoonotic reservoir of R. prowazekii exists. In addition to the detection of antibodies against R. prowazekii in a wide range of domestic and wild animals, R. prowazekii was isolated from the blood of Egyptian donkeys and from the spleens, fleas and lice of the flying squirrel in Florida, USA. R. prowazekii was also isolated from Hyalomma spp. ticks recovered from livestock in Ethiopia and Amblyomma spp. ticks in Mexico. A typhus outbreak requires the occurrence of both body louse outbreak and a case of bacteraemic typhus (Brill–Zinsser disease or epidemic typhus) (Fig. 3). These two conditions are often combined in wartime, where stress, lack of hygiene and non-changing of clothes during the winter months are common. Microbiology Today May 14 | www.sgm.ac.uk 69 216 “ “ organisation is disrupted lesions on the skin. R. prowazekii enters the skin through these lesions or by the contamination of conjunctivae or mucous membranes with louse faeces containing rickettsiae. Infection through the aerosols of faeces-infected dust has also been reported and is the major risk among physicians. Body louse outbreak Clinical manifestations of epidemic typhus The body louse is a blood-sucking ectoparasite, specific to humans, that lives and multiplies in clothing. During its life cycle of approximately 35 days, the female louse lays an average of 200 eggs, which can increase the number of lice from a few to thousands on the same individual. The body louse ingests an average of five meals a day, generating extremely dry dejections. It injects various substances when biting that cause itching, compelling the host to scratch vigorously thereby generating Epidemic typhus is a life-threatening, acute exanthematic feverish disease that is primarily characterised by the abrupt onset of fever with painful myalgia, a severe headache, malaise and a rash. Non-specific symptoms sometimes include a cough, abdominal pain, nausea and diarrhoea. The rash that is characteristic of epidemic typhus classically begins a few days after the onset of symptoms, appearing as a red macular or maculopapular eruption on the trunk that later spreads centrifugally Epidemic typhus is an unpredictable disease that can suddenly re-emerge when social (1) (2) to the extremities (Fig. 4). The rash, which may be hard to see in darkerskinned individuals, except in the axilla, is classically described as sparing the palms and soles. Gangrene and necrosis of toes and fingers that necessitates amputation has been observed. Neurologic symptoms include confusion and drowsiness. Coma, seizures and focal neurologic signs may develop in a minority of patients. The mortality rate varies from 0.7 to 60% for untreated cases, depending on the age of the patient, with a case fatality ratio lower than 5% in patients less than 13 years old. In self-resolving cases, R. prowazekii can persist for life in humans, and under stressful conditions recrudescence may occur as a milder form of Brill–Zinsser disease. R. prowazekii bacteraemia occurs in Brill–Zinsser disease so it can initiate an outbreak of epidemic typhus when body lice are present on the infected individuals. (3) Body lice infection R. prowazekii-infected body lice infestation Wars and cold Crowding, lack of hygiene and no clothing change Body lice outbreak Brill–Zinsser Disease Typhus outbreak Fig. 3. Outbreak of epidemic typhus. When social organisation is disrupted, (1) body louse outbreak occurs among defenceless populations and (2) the presence of a case of Brill–Zinsser can initiate (3) an outbreak of epidemic typhus. Credit 70 Microbiology Today May 14 | www.sgm.ac.uk 217 Fig. 4. Diffuse petechial rash of epidemic typhus. Credit relapsing fever and caused by Borrelia recurrentis. Conclusion Fig. 5. Soldiers’ kit bags being placed into gas chambers to be deloused during World War I. Otis Historical Archives, National Museum of Health and Medicine/Science Photo Library Typhus in the First World War The declaration of war by Austria against Serbia in 1914 following the assassination of Archduke Ferdinand quickly expanded into an uncontrollable global conflict in World War I. On the Eastern Front, intense shelling of Serbian cities destroyed the existing infrastructure and drove the population to the streets, and at least 20,000 Austrians were taken prisoner by the Serbs. There was a lack of physicians and other medical professionals because they had been seconded to the army, which led to the rapid collapse of the health status of defenceless populations. Malnutrition, overcrowding and a lack of hygiene paved the way for typhus. In November 1914, typhus made its first appearance among refugees and prisoners, and it then spread rapidly among the troops. One year after the outbreak of hostilities, typhus killed 150,000 people, of whom 50,000 were prisoners in Serbia. A third of the country’s doctors suffered the same fate. The mortality rate reached an epidemic peak of approximately 60 to 70%. This dramatic situation dissuaded the Germano-Austrian commandment from invading Serbia in an attempt to prevent the spread of typhus within their borders. Drastic measures were taken, such as the quarantine of people with the first clinical signs of the disease, but attempts were also made to apply standards of hygiene among the troops to prevent body lice infestations (Fig. 5). On the Western Front, although body lice were also endemic among the troops, there was no outbreak of typhus. The situation lacked the R. prowazekii bacteraemia to trigger a typhus epidemic, as had happened on the Eastern Front. Another disease, described for the first time and also vectored by the body louse, was raging in the trenches among the troops. It is caused by the bacterium Bartonella quintana and was named trench fever. On the Russian front, throughout the last two years of the conflict and during the Bolshevik revolution, approximately 2.5 million deaths were recorded. Typhus was latent in Russia long before the beginning of World War I. The mortality rate rose from 0.13 per 1,000 in peacetime to 2.33 per 1,000 in 1915. Soldiers and refugees imported typhus and propagated it across the country. It was during the hard winter of 1917– 1918 that the biggest outbreak of typhus in modern history began in a Russia that was already devastated by famine and war. The great epidemic started in the big cities and eventually reached the distant lands of the Urals, Siberia and Central Asia. After World War I, between 1919 and 1923, there were five million deaths in Russia and Eastern Europe because of a third disease vectored by body lice, Epidemic typhus is an unpredictable disease that can suddenly re-emerge when social organisation is disrupted, as was observed in 1997 among Burundi’s Civil War refugees in central Africa. Wars are optimal conditions for body louse proliferation and their associated diseases. Thus, the control of lice with the combination of oral Ivermectin, clean clothes and insecticides will help to avoid disasters caused by typhus, trench fever and relapsing fever during humanitarian catastrophes. Rezak Drali, Philippe Brouqui & Didier Raoult Aix Marseille Université, URMITE, UM63, CNRS 7278, IRD 198, Inserm 1095, 13005 Marseille, France and Institut HospitaloUniversitaire Méditerranée Infection, 13005, Marseille, France; Corresponding author Tel. +33 491 32 43 75 didier.raoult@gmail.com Further reading Bavaro, M. F. & others (2005). History of US military contributions to the study of Rickettsial diseases. Mil Med 170 (Suppl. 1), 49–60. Bechah, Y. & others (2008). Epidemic typhus. Lancet Infect Dis 8, 417–426. Raoult, D., Woodward, T. & Dumler, J. S. (2004). The history of epidemic typhus. Infect Dis Clin N Am 18, 127–140. Tschanz, D. W. (2008). Typhus Fever on the Eastern Front in World War I. Insects, Disease and History Website, Entomology Group of Montana State University, microb.io/1kLupfa (accessed 18 January 2008). Zinsser, H. (1935). Rats, lice and history: A chronicle of pestilence and plagues. New York: Black Dog and Leventhal Publishers. Microbiology Today May 14 | www.sgm.ac.uk 71 218 Remerciements Je commencerai par remercier le Professeur Didier RAOULT pour avoir accepté de m’accueillir dans son laboratoire. Je suis honoré et extrêmement fier d’avoir travaillé sous votre direction. Permettez-moi de vous exprimer mon profond respect. Je remercie le Professeur Philippe BROUQUI, mon directeur de thèse et avant cela mon responsable de Master. Je vous exprime ma gratitude pour m’avoir dirigé, conseillé et aidé à mener à terme cette thèse. Merci au Professeur Jean-Marc ROLAIN. J’ai beaucoup apprécié d’avoir travaillé avec vous. Vous avez toujours répondu présent à mes sollicitations. Je remercie tous mes co-auteurs que je ne pourrais citer individuellement car et ils sont nombreux. Merci au Docteur Idir BITAM. Vos encouragements et vos conseils m’ont toujours poussé à aller de l’avant. J’espère que l’avenir nous réserve une longue et fructueuse collaboration. Je remercie mes rapporteurs d’avoir accepté d’évaluer ce travail. Je remercie toute l’équipe de l’URMITE et particulièrement tous les membres avec qui j’ai été amené à travailler. Enfin, je remercie vivement l’Institut Pasteur d’Algérie, l’institution à laquelle j’appartiens qui m’a permis d’entreprendre et mener à terme cette thèse. 219