Dr. K. Thangaraj, FNABS, FAPAS Principal Scientist & Group Leader Evolutionary and Medical Genetics Laboratory Centre for Cellular and Molecular Biology Uppal Road, Hyderabad 500 007, India Tel: + 91-40-27192828 (Office) 09908213822 (mobile) Fax: + 91-40-27160591 E-mail: thangs@ccmb.res.in Personal Date of birth Sex Father’s name Place of birth 2nd June 1963 Male V. Kumarasamy Cheyyur, Kanchipuram District, Tamil Nadu 603 302, India Academic Education 1988 M.Sc (Zoology), Loyola College, University of Madras, Chennai, India 1990 M.Phil (Genetics), University of Madras, Chennai, India 1996 Ph.D (Genetics), University of Madras, Chennai, India Research interests 1. Origin of modern human using contemporary and ancient DNA 2. Genetic causes of male infertility 3. Molecular basis of sex determination 4. Molecular basis of mitochondrial disorders 5. Genetics of cardiovascular diseases 6. Ayur Genomics Membership / Fellowship of professional bodies/societies 1. Member, Editorial Board of the journal "Mitochondrion" 2. Member, Editorial Board of the journal "Human Biology" 3. Member, Editorial Board of the journal “Clinical Genetics” 4. Member, Editorial Board of the journal “BMC Investigative Genetics” 5. Member, Editorial Board of "The open Andrology Journal" 6. Associate Editor, “BMC Medical Genetics” 7. Review Editor, “Frontiers in Evolutionary and Population Genetics” 8. President - "Indian Society of Human Genetics" 9. Founder (Secretary)- "Indian Society for Mitochondrial Research and Medicine" 10. Fellow, National Academy of Biological Sciences, Chennai 11. Fellow, Andhra Pradesh Akademi of Sciences 1 12. Member, The National Academy of Sciences, Allahabad Member of Academic Committees 1. Scientific Advisory Committee, National Institute of Immunohaematology (ICMR), Mumbai 2. Scientific Advisory Committee, Regional Medical Research Centre (ICMR), Port Blair. 3. Scientific Advisory Committee, Bhagwan Mahavir Medical Research Centre, Hyderabad 4. Scientific Advisory Committee, Institute of Genetics, Hyderabad 5. Scientific Advisory Committee, Merck Millipore Biosciences, Bangaluru 6. Member, Human Genetics Task Force, DBT, Government of India, New Delhi 7. Member, Pharmacogenomics Task Force, ICMR, Government of India, New Delhi 8. Member, Sub-Committee on Palaeo-anthropology & archaeology, Anthropological Survey of India, Kolkata. 9. Member, Research Advisory Board, Narayana Medical College, Nellore (AP). 10. Member, Assessment Committee (technical expert), National Accreditation Board for Testing and Calibration Laboratories (DST), Government of India, New Delhi. 11. Member, Project Evaluation Committee, Technology Development Board, Department of Science and Technology (DST), Government of India, New Delhi Honors and Awards 1. Junior Research Fellowship: Awarded by Director General of Health Services (April, 1990) 2. Senior Research Fellowship: Awarded by Council of Scientific and Industrial Research (September, 1992) 3. Adjunct Visiting Professor, Manipal University, Manipal (Since 2006 – till date) 4. Raman Research Fellow Awarded by Council of Scientific and Industrial Research (for the year 2006 – 2007) 5. Rashtria Rathan Award along with Certificate of Medical Excellence and Gold Medal, by International Study Circle, New Delhi (November 10, 2006). 6. UKIERI (UK India Education and Research Initiative) Award by Gordon Brown, British Prime minister (2007 – 2012). 7. Prof. GK Manna Memorial Lecture Award, at the 14th All India Congress of Cytology and Genetics, 1st December, 2009, Kolkata, India 2 Deputations/Assignments in abroad International Centre for Genetic Engineering and Biotechnology (ICGEB) Trieste, Italy October 9-13, 1995 To participate in the "Human Genome Diversity" workshop Department of Biochemistry, Oxford University, UK 1st November 1996 – 31st January, 1997 To subclone and physical map of human YACs" and "human genome diversity". Sanger Institute, Cambridge, UK May 29 – September 29, 2006 Visited as a Raman Research fellow Genome Research Centre, Seoul, Korea November 27 – 28, 2006 Invited to deliver lecture in the 1st Asia Joint Genomic Workshop Queensland Institute of Medical Research, Brisbane, Australia May 7 – 9, 2007 Invited to deliver lecture in the 4th Indo-Australian Conference on Genes and Environment in Human Disease Department of Genetics, Harvard Medical School, Boston, USA November 7 – December 4, 2007 Invited for a collaborative research programme on “Origin of modern Human” Applied Biosystems, Foster City, San Francisco, USA June 7 - 22, 2008 Training in Ultra throughput Sequencer- SOLiD SOLiD User meet, Barcelona, Spain July 8 - 12, 2008 Invited to participate in the user meeting of Ultra throughput Sequencer- SOLiD Oxford University, Oxford, UK September 20-21, 2010 Invited to deliver a talk in the European Genomics Meeting. National Institute of Infectious Diseases, Tokyo, Japan January 9-12, 2011 Invited to deliver a talk in the Japan-US Medical co-operative meeting Institute for Tropical Medicine, Tuebingen University, Germany January 11- 15, 2012 Invited to deliver a special talk in the University Research Grants 1. Genetic causes of male infertility (ICMR) – completed 2. Molecular characterization of Indian Goat breeds (DBT) - completed 3. Molecular Basis of sex determination and infertility in human (CSIR) – completed 3 4. Genomic diversity in the caste and tribal populations of Himalayan region (CSIR) – completed 5. Genomic diversity in the tribal populations of Andhra Pradesh in the broader context of the peopling of India (CSIR) - ongoing 6. Molecular Epidemiology of the KOTA Tribe in Nilgiri Hills – The Unique Population and opportunity to study total Population (DBT) - completed 7. The parental origin of the X chromosome(s) in Turner and Klinefelter syndromes (DST) completed 8. Cytogenetic and Molecular Evaluation of Infertile Males (CSIR) - completed 9. Genome diversity in the selected tribal populations of Maharashtra (CSIR) - completed 10. ‘Was the first ‘out of Africa’ settlement of Homo sapiens in India’? (UKIERI)- ongoing 11. Genomic variation analysis and gene expression profiling of Human Dosha Prakriti based on principles of Ayurveda (DST) – ongoing 12. Molecular and histological analysis of neurological disorders associated with mitochondrial DNA mutations (DBT) – ongoing 13. Genetic study on autosomal recessive limb gridle muscular dystrophy (DST) – ongoing 14. Genetic polymorphisms associated with stroke in the south Indian populations (ICMR) – ongoing 15. Anticoccidial vaccine development: the importance of genetic diversity and delivery strategy (BBSRC) – ongoing Conferences and Training Courses organized 1. 1st Annual Conference of the Society for Mitochondrial Research and Medicine, entitled “Mitochondria in Biology and Medicine” 9 – 10 December 2011, Hyderabad. 2. Workshop on High-Resolution Respirometry (O2K), 8th December 2011, Hyderabad. 3. A three day symposium on “Genomics and Biodiversity”, 23 – 25 February 2011, Hyderabad, India; Followed by Hands-on Workshop on “Methods for Characterization, Conservation and Utilization of Biodiversity”, 26th February – 15th March 2011, Hyderabad, India 4. 2st Indo-US Workshop on “Mitochondrial Research and Medicine”, November 12-14, 2008, Manipal, India. 5. HUGO meeting, (Chairman, Local Organizing Committee); September, 27 – 30, 2008, Hyderabad, India 6. International Symposium on “Chromosomes to Genome”, July 3-5, 2007, Hyderabad, India 7. 1st Indo-US Workshop on “Mitochondrial Research and Medicine”, January 22-24, 2007, Hyderabad, India 8. EMBO Workshop on “Human Evolution and Disease”, December 6 – 9, 2006, Hyderabad, India 4 9. XXX Annual conference of Indian Society of Human Genetics and 9th ADNAT Convention “Molecular Medicine and Health” 20-23 February, 2005, Hyderaba, India 10. Hands-on Training Course on "Chromosomal and Molecular Diagnostics", February 24 March 10, 2005. Hyderabad, India 11. Hands-on Training Course on "DNA markers: Development and Applications", February 25 March 12, 2004. Hyderabad. 12. Workshop on “Laboratory methods in Human Genome Diversity” organised in collaboration with Anthropological survey of India (22-23 Oct 2002). 13. International Hands-on Training Course on DNA sequencing and Genotyping, February 25 – March 10, 2002, Hyderabad. 14. XXVI Annual Conference of the Indian Society of Human Genetics "Human Genome and Beyond", February 23-24, 2001 Hyderabad. 15. Hands-on Training Course on "Microsatellite Markers in Genome Diversity", February 23 March 5, 2000. Hyderabad. Ph. D. Guidance Degree awarded: 4 Presently guiding six Ph. D students on the following topics 1. Study of genetic diversity and disease haplotypes in Indian Populations. 2. Identification of Novel genes involved in spermatogenesis. 3. Molecular basis of mitochondrial-associated neurological disorders 4. Genetic evolution and adaptation in the contemporary population of India 5. Morphometric and aDNA study of human skeletal remains from the Mesolithic and Neolithic periods in India; 6. Evolutionary genetic study of hunter-gatherer populations of India Generation of know-how in genetics and molecular biology Training offered to the following students/staff in the applied areas of genetics and molecular biology. 1. Over 300 M.Sc students from different Universities and colleges (all over India). 2. Twelve Scientists from Anthropological Survey of India 3. Three Ph.D scholars from different Universities. 4. Three Scientists from AP State forensic Science laboratory, Hyderabad. 5. One Officer from AP police Academy. 6. One lecturer from Nagaland University 7. One Scientist and two students from Central Drug Research Institute, Lucknow 5 8. Two student from Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 9. One staffs from Apollo Hospitals, New Delhi 10. Two staffs from Surendra Genetic Laboratories, Chennai Service offered DNA profiling to establish the identity Over 700 cases of DNA fingerprinting service offered to establish identity for various purposes such as; paternity, maternity, missing baby, Air crash, organ transplantation, etc. Genetic disorders and counseling About 1500 infertile men, 85 sex reversed individual and 300 cases with mitochondrial disorders were analysed. Based on the mutations, genetic counseling was provided to the above cases. Popularization of science 1. Research work regarding the origin of Andaman tribes was interviewed by BBC radio, London. 2. Interview by ‘Kungumam’ a Tamil weekly magazine, Chennai 3. Participated in Science programme in All India Radio, Chennai. 4. Research work on Roopkund human remains (800AD) telecasted on November 9, 2004 by “National Geography” 5. Interviewed by Star, Headline, Sahara and E TVs regarding our research work on Andaman Tribes and their survival after Tsunami. 6. Interview by Sun TV for the programme called “Namma Oouru Vingnani”. 7. Participated in the BBC Scientific documentary (based on our research work published in nature) “GENE CODE: The Book of Life” List of Publications 1. Thangaraj K, Chandra N, Papakumari M, Gopinath PM (1992) An extra marker chromosome in a mentally retarded child. Biomedicine 12: 18-21. 2. Thangaraj K, Srikumari CR, Ramesh A (1992) The genetic composition of an endogamous AdiDravidar population of Tamil Nadu. Gene Geography 6: 27-30. 3. Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, Gerelsaikhan T, Dashnyam B, Sajantila A, Salo PJ, Nakahori Y, Disteche CM, Thangaraj K, Singh L, Crawford MH, Tyler-Smith C (1996) Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5: 1767-1775. 4. Pandya A, King TE, Santos FR, Taylor PG, Thangaraj K, Singh L, Jobling M, Tyler-Smith C (1998) A polymorphic human Y chromosomal G to A transition found in India. Ind. J. Hum. Genet. 4: 52-61. 5. Thangaraj K, Gupta NJ, Chakravarty B, Singh L (1998) A 47,XXY female. Lancet 352: 1121. 6 6. Singh L, Pathak N, Rachel AJ, Thangaraj K. Snake's eye view of Adam and Eve. In "Reproductive Immunology" Ed. Gupta SK, Narosa Publishing House, New Delhi, 1999: pp 133-148. 7. Zerjal T, Pandiya A, Santos F, Adhikari R, Tarazona E, Beckman L, Kayser M, Evgrafov O, Singh L, Thangaraj K, Bisol GD, Thomas MG, Qamar R, Mehdi Q, Rosser ZH, Hurles, Jobling MA, Tyler-Smith C. The use of Y chromosomal DNA variation to investigate population history: recent male sperad in Asia and Europe. In "Genomic Diversity: Applications in human population Genetics'' Ed. Papiha, Deka and Chakraborty, Kluwer Academic/Plenum Publishers, New York, USA, 1999: pp 91-101. 8. Thangaraj K, Ramana GV, Singh L (1999) Y chromosome and mitochondrial DNA polymorphisms in Indian populations. Electrophoresis 20: 1743-1747. 9. Thangaraj K, Joshi MB, Reddy AG, Gupta NJ, Chakravarty B, Singh L (2002) CAG repeat expansion in the androgen receptor gene is not associated with male infertility in Indian populations. J. Androl. 23: 813-816. 10. Thangaraj K , Reddy A G, Singh L (2002) Is amelogenin gene reliable for Gender Identification of forensic samples and prenatal diagnosis? Intl. J Legal. Med. 116:121-123. 11. Rao VR, Thangaraj K, Reddy AG, Sridhar V, Singh L (2003) Pairwise mtDNA HVRII sequence differences and geographic maternal distances among Korku, an Austro-Asiatic tribe in central India. Ind. J. Hum. Genet. 9: 25-28. 12. Thangaraj K, Singh L, Reddy AG, Rao VR, Sehgal SC, Underhill PA, Pierson M, Frame IG, Hagelberg E (2003) Genetic affinities of the Andaman Islanders, a vanishing human population. Curr. Biol. 13:86-93. 13. Thangaraj K, Subramanian S, Reddy AG, Singh L (2003) A unique case of deletion and duplication in the long arm of the Y chromosome in an individual with ambiguous genitalia. Am. J. Med. Genet. 116A: 205-207. 14. Thangaraj K, Joshi MB, Reddy AG, Rasalkar AA, Singh L (2003) Sperm mitochondrial mutation as a cause of low sperm motility. J. Androl. 24: 388-392. 15. Thangaraj K, Gupta NJ, Pavani K, Reddy AG, Subramainan S, Rani DS, Ghosh B, Chakravarty B, Singh L (2003) Y Chromosome deletion in azoospermic men in India. J. Androl. 24: 588597. 16. Langstiesh BT, Reddy BM, Thangaraj K, Singh L (2004) Genetic relationships among the tribes of Meghalaya, India: Matriliny and reduced microsatellite diversity. Hum Biol. 76:569-590. 17. Anuradha P, Rozati R, Thangaraj K, Khatri G, Hanumantharao P (2004) Molecular screening of unculturable bacteria present in men with reproductive failure. Reprod. Biomed. Biol. 3: 77-84. 18. Thangaraj K, Reddy AG, Singh L (2004) Mutation in the STR locus D21S11 of father causing allele mismatch in the child: a case report. J. Forensic Sci. 49: 99-103. 19. Joshi MB, Rout PK, Mandal AK, Tyler-Smith C, Singh L, Thangaraj K (2004) Phylogeography and origin of Indian domestic goats. Mol. Biol. Evol. 21:454-462. 7 20. Reddy BM, Naidu VM, Madhavi VK, Thangaraj LK, Kumar V, Langstieh BT, Venkatramana P, Reddy AG, Singh L. (2005) Microsatellite diversity in Andhra Pradesh, India: genetic stratification versus social stratification. Hum Biol. 77:803-823. 21. Sachdev M, Sankaranarayanan R, Reddanna P, Thangaraj K, Singh L (2005) MHC class I polymorphism in Asiatic lions. Tissue Antigens 66:9-18. 22. Reddy BM., Naidu VM, Madhavi VK, Thangaraj K, Langtieh BT, Venkataramana P, Kumar V, Singh L (2005) STR Data for the Amp FlSTR Profiler Plus Loci Among 27 Populations of Different Social Hierarchy from Southern Part of Andhra Pradesh, India. Forensic Sci Intl. 149: 81-97. 23. Mishra DK, Thangaraj K, Mandhani A, Kumar A, Mittal RD (2005) Is reduced CAG repeat length in androgen receptor gene associated with risk of prostate cancer in Indian population? Clin Genet 68:55-60. 24. The Indian Genome Variation consortium: a project overview. (2005). Hum Genet 118:1-11. 25. Thangaraj K, Sridhar V, Kivisild T, Reddy AG, ChaubeyG, Singh VK, Kaur S, Agarawal P, Rai A, Gupta J, Mallick CB, Kumar N, Velavan TP, Suganthan R, Udaykumar D, Rashmi V, Mishra R, Khan A, Annapurna A, Singh L (2005) Different population histories of the Mundari and Mon-Khmer speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations. Hum Genet. 116: 507-517. 26. Thangaraj K, Chaubey G, Kivisild T, Reddy AG, Singh VK, Rasalkar AA, Singh L (2005) Reconstructing the origin of the Andaman Islanders. Science 308: 996. 27. Thangaraj K, Chaubey G, Kivisild T, Reddy A.G, Singh V.K, Rasalkar A.A and Singh L. (2005) Reply to Eswaran and Herpending. Science, 309:1996-1997. 28. Reddy BM, Reddy ANS, Nagaraja T, Bhaskar LVKS, Thangaraj K, Reddy AG, Singh L (2006) Single Nucleotide polymorphisms of the Alcohol Dehydrogenase Genes among the 28 Caste and Tribal Populations of India. Intl. J. Hum. Genet. 6: 309-316 29. Singh R, Shastry PK, Rasalkar AA, Singh L, Thangaraj K (2006) A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. J. Androl. 27:510-516. 30. Thangaraj K, Chaubey G, Reddy AG, Singh VK, Singh L (2006) Unique origin of Andaman islanders: insight from autosomal loci. J. Hum. Genet. 51:800-804. 31. Thangaraj K, Deepa SelviRani, Pavani K, Gupta NJ, Reddy P, Reddy AG, Chakravarty BN, Singh L (2006) A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population. Intl. J. Androl. 29:510-514. 32. Khattri A, Singh L, Thangaraj K (2006) Male Infertility: Genetic causes and their implications. Embryo Talk 1: 3-20. 33. Kumar V, Langsiteh BT, Biswas S, Babu JP, Rao TN, Thangaraj K, Reddy AG, Singh L, Reddy BM (2006) Asian and Non-Asian Origins of Mon-Khmer and Mundari Speaking Austro-Asiatic populations of India. Am. J. Hum. Biol. 18: 461-469. 8 34. Vanniarajan A, Nayak D, Reddy AG, Singh L, Thangaraj K (2006) Clinical and genetic uniqueness in an individual with MELAS. Am. J. Med. Genet (B). 141B: 440-444. 35. Prasad GN, Vanniarajan A, Emmanuel C, Cherian KM, Singh L, Thangaraj K (2006) Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy. Intl. J. Cardiol. 109: 432-433. 36. Vijayalakshmi K, Thangaraj K, Vettriselvi V, Sunil Shroff, Jayanth VR, Paul SFD (2006) South Indian men with reduced CAG repeat length in the androgen receptor gene have increased risk of prostate cancer. J. Hum. Genet. 52: 254-257. 37. Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K (2006) SRY negative 46,XX male with normal genitals, complete masculinization and infertility. Mol. Hum. Rep. 12: 341-346. 38. Kumar V, Langstieh BT, Madhavi KV, Naidu VM, Singh HP, Biswas S, Thangaraj K, Singh L, Reddy BM (2006) Global patterns in Human mtDNA Versus Y-chromosome Variation Caused by Spatial Instability of the Local Cultural Processes. PLoS Genet. 2: e53; 0420-0424. 39. Pandu G, Gandhi KPC, Sharma JD, Chaubey G, Thangaraj K. (2006) Genetic profile of nine STR loci among Goud and Padmashali populations of Andhra Pradesh, India. Forensic Sci Intl 157: 201-205. 40. Thangaraj K, Chaubey G, Singh VK, Reddy VK, Pavate PP, Singh L (2006) Genetic Profile of Nine Autosomal STR Loci among Halakki and Kunabhi populations of Karnataka, India. J. Forensic Sci. 51: 190-192. 41. Rajender S, Rajani V, Gupta NJ, Chakravarty BN, Singh L, Thangaraj K (2006) No association of androgen receptor GGN repeat length polymorphism with infertility in Indian Men. J. Androl. 27:785-789. 42. Gupta SK, Thangaraj K, Singh L (2006) A Simple and Inexpensive Molecular Method for Sexing and Identification of the Forensic Samples of Elephant Origin. J. Forensic Sci 51:805807. 43. Thanseem I, Thangaraj K, Chaubey G, Singh VK, Bhaskar LVKS, Reddy BM, Reddy AG, Singh L (2006) Genetic affinities among the lower caste and tribal groups of India: inference from Y chromosome and Mitochonfrial DNA. BMC Genetics 7: 42 44. Vijayalakshmi K, Thangaraj K, Rajender S, Vettriselvi V, Venkatesan P, Sunil Shroff, Vishwanathan KN, Paul SFD (2006) GGN repeat length and GGN/CAG haplotype variations in the androgen receptor gene and prostate cancer risk in south Indian Men. J. Hum. Genet. 51:998-1005 45. Vanniarajan A, Rajshekher GP, Joshi MB, Reddy AG, Singh L, Thangaraj K (2006) Novel mitochondrial mutation in ND4 gene associated with Leigh Syndrome. Acta Neurol. Scan. 114:350-353. 46. Deepa-SelviRani, Vanniarajan A, Gupta NJ, Chakravarty BN, Singh L, Thangaraj K (2006) A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent. Fert. Sterl. 86:1783-1785. 9 47. Singh R, Deepa SR, Madhavi S, Gupta NJ, Chakravarty BN, Singh L, Thangaraj K (2006) Male infertility: No Evidence of Involvement of Androgen Receptor Gene among Indian Men. J. Androl. 27: 102-105. 48. Thangaraj K, Chaubey G, Kivisild T, Reddy A.G, Singh V.K, Rasalkar A.A and Singh L. (2006) Response to Comment “Reconstructing the Origin of Andaman Islanders”. Science, 311:407. 49. Thangaraj K, Chaubey G, Singh VK, Vanniarajan A, Thanseem I, Reddy AG, Singh L (2006) In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup ‘M’ in India. BMC Genomics. 7: 151- 50. Thangaraj K, Rajender S, Gupta NJ, Leelavathy N, Rani DS, Nambiar RG, Kalavathy V, Santhiya ST, Rajangam S, Gopinath PM, Chakravarty BN, Singh L (2006) A novel human sexdetermining gene linked to Xp11.21-11.23. J. Clin. Endo. Metabol. 91:4028-36. 51. Bhaskar LVKS, Thangaraj K, Shah AM, Pardhasarahi G, Kumar LP, Reddy AG, Rao AP, Mulligan CJ, Singh L, Rao VR (2007). Allelic variation in the NPY gene in 14 Indian populations. J. Hum. Genet. 52:592-598. 52. Thangaraj K, Chaubey G, Singh VK, Reddy AG, Chauhan P, Malvee R, Pavate PP, Singh L (2007) Y-chromosome STR haplotypes in two endogamous tribal populations of Karnataka, India. J. Forensic Sci. 52: 751-753. 53. Thangaraj K, Chaubey G, Reddy AG, Singh VK, Singh L (2007) Autosomal STR data on the enigmatic Andaman islanders. Forensic Sci. Intl. 169:247-251. 54. Kumar V, Reddy ANS, Babu JP, Rao TN, Langstieh BT, Thangaraj K, Reddy AG, Singh L, Reddy BM (2007) Y-chromosome evidence suggests a common paternal heritage of AustroAsiatic populations. BMC Evol. Biol.7: 47 55. Dhandapany PS, Sadayyapan S, Vanniarajan A, Karthikeyan B, Nagaraj C, Gowrishankar K, Selvam GS, Singh L, Thangaraj K (2007) Novel mitochondrial DNA mutations implicated in Noonan syndrome. Intl. J. Cardiol. 120:284-285. 56. Kadalmani K, Bagavathi S, Anishetty S, Deepa-SelviRani, Thangaraj K, Gajalakshmi P (2007) Independent origin of 185delAG BRCA1 mutation in an Indian family. Neoplasma 54:51-56. 57. Kalita J , Misra UK , Mishra DK , Thangaraj K , Mittal RD , Mittal BR (2007) Nonprogressive juvenile-onset spinal muscular atrophy: A clinico-radiological and CAG repeat study of androgen receptor gene. J Neurol Sci. 252:24-28. H H H H H H H H H H H H H H 58. Gajalakshmi P, Natarajan TG, Deepa-SelviRani, Thangaraj K (2007) A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer. Breast Cancer Res. Treat. 101:3-6. 59. Rajender S, Singh L, Thangaraj K (2007) Phenotypic heterogeneity of mutations in androgen receptor gene. Asian J. Androl. 9:147-179. 60. Rao VR, Bhaskar LVKS, Annapurna Ch, Reddy AG, Thangaraj K, Rao AP, Singh L (2007) Single Nucleotide Polymorphisms in Alcohol Dehydrogenase (ADH) genes among Some Indian populations. Am. J. Hum. Biol. 19:338-344. 10 61. Mittal RD, Mishra DK, Thangaraj K, Singh R, Mandhani A (2007) Is there an inter-relationship between prostate specific antigen, kallikrein-2 and androgen receptor gene polymorphisms with risk of prostate cancer in north Indian population? Steroids 72:335-341. 62. Zerjal T, Pandya A, Thangaraj K, Ling EY, Kearley J, Bertoneri S, Paracchini S, Singh L, Tyler-Smith C. (2007) Y-chromosomal insights into the genetic impact of the caste system in India. Hum Genet. 121:137-144. 63 Rajender S, Singh L, Thangaraj K (2007) L859F Mutation in androgen receptor gene results in complete loss of androgen binding to the receptor. J. Androl. 28:772-776. 64. Khattri A, Pandey R K, Gupta NJ, Chakravarty BN, Deendayal M, Singh L, Thangaraj K (2007) CA repeat and RsaI polymorphisms in ERβ gene are not associated with infertility in Indian men. Intl. J. Androl. 30:1-7 65. Reddy BM, Langstieh BT, Kumar V, Nagaraja T, Reddy ANS, Aruna M, Reddy AG, Thangaraj K, Singh L (2007) Austro-Asiatic Tribes of Northeast India Provide Hitherto Missing Genetic Link between South and Southeast Asia. PLoS ONE 2: e1141 66. Rajender S, Singh L, Thangaraj K (2008) Androgen insensitivity syndrome: Do trinucleotide repeats in androgen receptor gene have any Role? Asian J. Androl. 10:616-624 67. Thangaraj K, Chaubey G, Kivisild T, Rani DS, Singh VK, Ismail T, Carvalho-Silva D, Metspalu M, Bhaskar LVKS, Reddy AG, Chandra S, Pande V, Prathap-Naidu B, Adarsh N, Verma A, Jyothi IA, Mallick CB, Shrivastava N, Devasena R, Kumari B, Singh AK, Diwedi SKD, Singh S, Rao G, Gupta P, Sonvane V, Kumari K, Basha A, Bhargavi KR, Lalremruata A, Gupta AK, Kaur G, Reddy KK, Rao AP, Villems R, Tyler-Smith C, Singh L (2008) Maternal footprints of southeast Asians in north India. Hum. Heredity. 28:66:1-9 68. Bhaskar LVKS, Thangaraj K, Mulligan CJ, Rao AP, Pardhasaradhi G, Kumar KP, Shah AM, Sabeera B, Reddy AG, Singh L, Rao VR (2008) Allelic variation and haplotype structure of the Dopamine receptor gene DRD2 in 9 Indian populations. Genet. Testing 12:153-160 69. Rout PK, Joshi MB, Mandal A, Laloe D, Singh L, Thangaraj K (2008) Microsatellite-based phylogeny of Indian domestic goats. BMC Genet. 9:11 70. Chaubey G, Metspalu M, Karmin, Thangaraj K, Rootsi S, Parik J, Solnik A, Rani DS, Singh VK, Naidu BP, Reddy AG, Metspalu E, Singh L, Kivisild T, Villems R (2008) Language Shift by Indigenous Population: A Model Genetic Study in South Asia. Intl. J. Hum. Genet. 8:41- 50. 71. Velu V, Saravanan S, Nandakumar S, Dhevahi E, Shankar EM, Murugavel KG, Thangaraj K, Thyagarajan SP (2008) Transmission of “a” determinant variants of Hepatitis B virus in immunized babies to HBsAg carrier mothers. Jpn. J. Infect. Dis. 61: 73-76. 72. Rajender S, Pandu G, Sharma JD, Gandhi KPC, Singh L, Thangaraj K (2008) Reduced CAG repeats length in androgen receptor gene is associated with violent criminal behavior. Intl. J. Legal Med. 22:367-372. 73. Mittal B, Tripathy V, Aruna M, Reddy AG, Thangaraj K, Thanseem I, Singh L, Reddy BM (2008) Mitochondrial DNA Variation and Substructure among the Tribal Populations of Andhra Pradesh, India. Ann. Hum. Biol. 20:683-692. 11 74. Rani DS, Carlus JS, Poongothai J, Jyothi A, Pavani K , Gupta NJ, Reddy AG, Rajan MM, Chakravarty BN, Singh L, Thangaraj K (2008) CAG repeat variation in the mtDNA polymerase (POLG) is not associated with oligoasthenozoospermia. Intl. J. Androl. 32:647-655. 75. Suryavathi V, Khattri A, Gopal K, Rani DS, Panneerdoss S, Gupta NJ, Chakravarty BN, Deendayal M, Singh L, Thangaraj K (2008) Novel variants in UBE2B gene and idiopathic male infertility. J. Androl. 29:564-571. 76. Brahmachari SK, Majumder PP, Mukerji M, Habib S, Dash D, Ray K, Bahl S, Singh L, Sharma A, Roychoudhury S, Chandak GR, Thangaraj K, et al (2008) Genetic landscape of the people of India: a canvas for disease gene exploration. J Genet. 87:3-20. 77. Chaubey G, Karmin M, Metspalu E, Metspalu M, Selvi-Rani D, Singh V, Parik J, Solnik A, Naidu P, Kumar A, Adarsh N, Mallick CB, Trivedi B, Prakash S, Reddy R, Shukla P, Bhagat S, Verma S, Vasnik S, Khan I, Barwa A, Sahoo D, Sharma A, Rashid M, Chandra V, Reddy AG, Torroni A, Thangaraj K, Singh L, Kivisild T, Foley RA, Villems R (2008) Phylogeography of mtDNA haplogroup R7 in the Indian peninsula. BMC Evol. Biol. 4;8:227. 78. Uppin MS, Sundaram C, Meena AK, Reddy KM, Reddy KK, Vanniarajan A, Thangaraj K (2008) Lipid storage myopathies with unusual clinical manifestations. Neurol India. 56:391393 79. Karkare K, Ravishankar S, Gayathri N, Yasha TC, Goyal MK, Vijayan J, Vanniarajan A, Thangaraj K, Taly AB (2008) Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypeic and MRI observation. Ann. Ind. Acad. Neurol. 11: 193 - 196 80. Rajender S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K. (2009) Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding. Fertil Steril. 91:933.e23-8. 81. Goswami M, Thangaraj K, Chaudhary BK, Bhaskar LVKS, Gopalakrishnan A, Joshi MB, Singh L, Lakra WS (2009) Genetic heterogeneity in the Indian stocks of seahorse (Hippocampus kuda and Hippocampus trimaculatus) inferred from mtDNA cytochrome b gene. Hydrobiol. 621: 213 – 221. 82. Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS, Nallari P, Rai TS, Khullar M, Soares P, Bahl A, Tharkan JM, Vaideeswar P, Rathinavel A, Narasimhan C, Ayapati DR, Ayub Q, Mehdi SQ, Oppenheimer S, Richards M, Price A, Patterson N, Reich D, Singh L, TylerSmith C, Thangaraj K (2009) A common Cardiac Myosin Binding Protein C variant associated with cardiomyopathies in South Asia. Nat. Genet. 41 187 – 191. 83. Thangaraj K and Rajender S (2009). Androgen insensitivity syndrome. In Encyclopedia of Molecular Mechanisms of Disease. Springer-Verlag GmbH Berlin Heidelberg. 81-83 84. Parthiban R, Shanmugam S, Velu V, Nandakumar S, Dhevahi E, Thangaraj K, Nayak HK, Gupte MD, Thyagarajan SP (2009) Transmission of hepatitis C virus infection from asymptomatic mother to child in southern India. Int J Infect Dis. 13:e399-400. 85. Eaaswarkhanth M, Dubey B, Meganathan PR, Ravesh Z, Khan FA, Singh L, Thangaraj K, Haque I (2009) Diverse genetic origin of Indian Muslims: evidence from autosomal STR loci. J Hum Genet. 54: 340-348. 86. Rajender S, Vijayalakshmi K, Pooja S, Madhavi S, Paul SF, Vettriselvi V, Shroff S, Singh L, Thangaraj K (2009) Longer (TA)n Repeat but not A49T and V89L Polymorphisms in SRD5A2 Gene May Confer Prostate Cancer Risk in South Indian Men. J. Androl. 30:703-10. 12 87. Khattri A, Pandey RK, Gupta NJ, Chakravarty BN, Deendayal M, Singh L and Thangaraj K (2009) Estrogen receptor gene mutations in Indian infertile men. Mol. Hum. Reprod. 15:513-20. 88. Khattri A, Pandey RK, Gupta NJ, Chakravarty BN, Deendayal M, Singh L and Thangaraj K (2009) APOB gene signal peptide deletion polymorphism is not associated with infertility in Indian men. J. Androl. 30:734-8. 89. Thangaraj K, Nandan A, Sharma V, Sharma VK, Eaaswarkhanth M, Patra PK, Singh S, Rekha S, Dua M, Verma N, Reddy AG, Singh L (2009) Deep rooting in-situ expansion of mtDNA haplogroup R8 in South Asia. PLoS ONE 4: e6545. 90. Chatterjee S, Rajender S, Kadam S, Maitra A, Thangaraj K, Meherji P, Modi D (2009) Longer CAG repeat length in Androgen Receptor gene is associated with premature ovarian failure. Hum. Reprod. 24:3230-5. 91. Reich D, Thangaraj K, Patterson N, Price AL, Singh L (2009) Reconstructing Indian Population History. Nature. 461: 489-494. 92. Bhaskar LVKS, Thangaraj K, Mulligan CJ, Samiksha W, Nandan A, Sharma VK, Sharma V, Reddy AG, Singh L, Rao VR (2009) Dopamine transporter (DAT1) VNTR polymorphism in twelve Indian populations. Neurol. Sci. 30: 487-493 93. Govindaraj P, Nahid KA, Vanniarajan A, Thangaraj K (2009) Mitochondrial dysfunction and diseses. In “Reviews in Neurology”, Ed. AB Taly and G. Singh. Pub: Arun B. Taly on behalf of Indian Academy of Neurology. pp 26-56. 94. Bhatnagar I, Singh M, Mishra N, Saxena R, Thangaraj K, Singh L, Saxena SK (2009) The latitude wise prevalence of the CCR5- d32-HIV resistance allele in India. Bal. J. Med. Genet. 12: 3-13. 95. Bhaskar LVKS, Thangaraj K, Non AL, Kumar KP, Pardhasaradhi G, Singh L, Rao VR (2010) Neuropeptide Y gene functional polymorphism influences susceptibility to hypertension in Indian population. J. Hum. Hyperten. 24:617-622 96. Rajender S, Pooja S, Kranthi KMV, Karwasra R, Singh L, Thangaraj K (2010) R659X mutation in the MLH1 gene in hereditary non-polyposis colorectal cancer (HNPCC) in an Indian extended family. Ind. J. Med. 131:64-70. 97. Aruna M, Nagaraja T, Bhaskar SA, Tarakeswari S, Sirisha PVS, Reddy AG, Thangaraj K, Singh L, Reddy BM (2010) Role of Progesterone Receptor polymorphisms in the Recurrent Spontaneous Abortions: Indian case. PLoS One 5:e8712. 98. Eaaswarkhanth M, Haque I, Ravesh Z, Romero IG, Meganathan PR, Dubey D, Khan FA, Chaubey G, Kivisild T, Tyler-Smith C, Singh L, Thangaraj K (2010) Traces of sub-Saharan and Middle Eastern Lineages in Indian Muslim Populations. Eur J Hum Genet 18: 354-363. 99. Underhill PA, Myres NM, Rootsi S, Metspalu M, Zhivotovsky LA, King RJ, Lin AA, Chow CE, Semino O, Battaglia V, Kutuev I, Järve M, Chaubey G, Ayub Q, Mohyuddin A, Mehdi SQ, Sengupta S, Rogaev EI, Khusnutdinova EK, Pshenichnov A, Balanovsky O, Balanovska E, Jeran N, Augustin DH, Baldovic M, Herrera RJ, Thangaraj K, Singh V, Singh L, Majumder P, Rudan P, Primorac D, Villems R, Kivisild T (2010) Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a. Eur. J. Hum. Genet. 18: 479-484. 13 100. Rani DS, Dhandapany PS, Nallari P, Govindaraj P, Singh L, Thangaraj K (2010) Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India. Mitochondrion 10: 166-173. 101. Gazi NN, Eaaswarkhanth M, Ferdous A, Qadri SS, Singh L, Thangaraj K (2010) Genetic Polymorphisms of 15 Autosomal STR Loci in three Isolated Tribal Populations of Bangladesh. Forensic Sci. Intl. Genet. 4:265-226. 102. Bhaskar LVKS, Thangaraj K, Pardhasaradhi G, Kumar PK, Singh L, Rao VR. (2010) Neuropeptide Y gene polymorphisms are not associated with obesity in a South Indian population. Eur. J. Clin. Nutr. 4: 868-872. 103. Dasgupta S, Sirisha PV, Neelaveni K, Anuradha K, Reddy AG, Thangaraj K, Reddy BM (2010) Androgen receptor CAG repeat polymorphism and epigenetic influence among the south Indian women with Polycystic Ovary Syndrome. PLoS One. 5:e12401. 104. Aruna M, Sudheer PS, Andal S, Tarakeswari S, Reddy AG, Thangaraj K, Singh L, Reddy BM (2010) HLA-G polymorphism patterns show lack of detectable association with recurrent spontaneous abortion. Tissue Antigens 76:216-222. 105. Rajender R, Pooja S, Gupta NJ, Chakrabarty BN, Singh L, Thangaraj K (2010) C601S mutation in the androgen receptor results in partial loss of androgen function. J. Stroid Biochem. Mol. Biol. 122: 359-363. 106. Bhaskar LVKS, Thangaraj K, Non LA, Singh L, Rao VR (2010) Population-based case-control study of DRD2 gene polymorphisms and alcoholism. J. Addict. Dis. 29: 475-480. 107. Thangaraj K, Naidu BP, Crivellaro F, Tamang R, Upadhyay S, Sharma VK, Reddy AG, Walimbe SR, Chaubey G, Kivisild T, Singh L (2010) The Influence of Natural Barriers in Shaping the Genetic Structure of Maharashtra Populations. PLoS One 5: e15283. 108. Sharma V, Singh R, Thangaraj K, Jyothy A (2011) A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. Fertil. Steril. 95:804.e19-21. 109. Pooja S, Francis A, Bid HK, Kumar S, Rajender S, Ramalingam K, Thangaraj K, Konwar R (2011) Role of ethnic variations in TNF-α and TNF-β polymorphisms and risk of breast cancer in India. Breast Cancer Res. Treat. 126:739-747. 110. Khattri A, Bhushan SS, Sireesha V, Gupta NJ, Chakravarty B, Deenadayal M, Singh L, Thangaraj K (2011) The TNP1 haplotype – GCG is associated with azoospermia. Intl. J Androl. 34:173-182. 111. Ashokkumar M, Emmanuel C, Dhandapany PS, Rani DS, Saibabu R, Cherian KM, Thangaraj K. (2011) Haplotypes on 9p21 Modify the Risk for Coronary Artery Disease Among Indians. DNA Cell Biol. 30:105-110. 112. Rajender S, Pooja S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K (2011) G708E Mutation in the Androgen Receptor Results in Complete Loss of Androgen Function. J. Androl. 32:193198. 113. Chaubey G, Metspalu M, Choi Y, Mägi R, Romero IG, Soares P, van Oven M, Behar DM, Rootsi S, Hudjashov G, Mallick CB, Karmin M, Nelis M, Parik J, Reddy AG, Metspalu E, van Driem G, Xue Y, Tyler-Smith C, Thangaraj K, Singh L, Remm M, Richards MB, Lahr MM, Kayser M, Villems R, Kivisild T (2011) Population Genetic Structure in Indian Austroasiatic 14 speakers: The Role of Landscape Barriers and Sex-specific Admixture. Mol. Biol. Evol. 28: 1013-1024. 114. Rajender S, Francis A, Pooja S, Krupakar N, Surekha D, Reddy G, Rao DR, Rao L, Ramachandra S, Vishnupriya S, Ramalingam K, Satyamoorthy K, Thangaraj K (2010) CAG repeat length polymorphism in the androgen receptor gene and breast cancer risk: data on Indian women and survey from the world. Breast Cancer Res Treat. 127:751-760. 115. Gupta SK, Bhagavatula J, Thangaraj K, Singh L (2011) Establishing the identity of the massacred tigress in a case of wildlife crime. J. Forensic Sci. 5: 74-75. 116. Aruna M, Sirisha PV, Andal Bhaskar S, Tarakeswari S, Thangaraj K, Reddy BM (2011). Role of 14-bp insertion/deletion polymorphism in HLA-G among Indian women with recurrent spontaneous abortions. Tissue Antigens. 77:131-135. 117. Aruna M, Nagaraja T, Andal Bhaskar S, Tarakeswari S, Reddy AG, Thangaraj K, Singh L, Reddy BM (2011) Novel alleles of HLA-DQ and -DR loci show association with recurrent miscarriages among South Indian women. Hum Reprod. 26:765-774. 118. Vanniarajan A, Govindaraj P, Carlus SJ, Aruna M, Aruna P, Kumar A, Jayakar RI, Lionel AC, Gupta S, Rao L, Gupta NJ, Chakravarthy B, Deenadayal M, Selvaraj K, Andal S, Reddy BM, Singh L, Thangaraj K (2011) Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women. Mitochondrion. 11:450-456. 119. Govindaraj P, Khan NA, Gopalakrishna P, Chandra RV, Vanniarajan A, Reddy AM, Singh S, Kumaresan R, Srinivas G, Singh L, Thangaraj K (2011) Mitochondrial dysfunction and genetic heterogeneity in chronic periodontitis. Mitochondrion. 11:504-512. 120. Gupta SK, Thangaraj K, Singh L (2011) Identification of the source of ivory idol by DNA analysis. J. Forensic Sci. 56:1343-1345 121 Sundaram C, Meena AK, Uppin MS, Govindaraj P, Vanniarajan A, Thangaraj K, Kaul S, Kekunnaya R, Murthy JM (2011) Contribution of muscle biopsy and genetics to the diagnosis of chronic progressive external opthalmoplegia of mitochondrial origin. J Clin Neurosci. 18:535-538. 122. Mehrotra S, Oommen J, Mishra A, Sudharshan M, Tiwary P, Jamieson SE, Fakiola M, Rani DS, Thangaraj K, Rai M, Sundar S, Blackwell JM (2011) No evidence for association between SLC11A1 and visceral leishmaniasis in India. BMC Med Genet. 12:71. 123. Shah AM, Tamang R, Moorjani P, Rani DS, Govindaraj P, Kulkarni G, Bhattacharya T, Mustak MS, Bhaskar LV, Reddy AG, Gadhvi D, Gai PB, Chaubey G, Patterson N, Reich D, Tyler-Smith C, Singh L, Thangaraj K (2011) Indian Siddis: African Descendants with Indian Admixture. Am J Hum Genet. 89: 154-161. 124. Elango S, Govindaraj P, Vishwanadha VP, Reddy AG, Tamang R, Muthusami U, Kunnoth S, Koyilil VK, Lakshman M, Shanmugasundharam N, Singh L, Thangaraj K (2011) Analysis of mitochondrial genome revealed a rare 50bp deletion and substitutions in a family with hypertension. Mitochondrion 11: 878-85. 125. Romero IG, Mallick CB, Liebert A, Crivellaro F, Chaubey G, Itan Y, Metspalu M, Muthukrishnan E, Pitchappan R, Villems R, Reich D, Singh L, Thangaraj K, Thomas MG, Swallow DM, Lahr MM, Kivisild T (2012) Herders of Indian and European cattle share their predominant allele for lactase persistence. Mol. Biol. Evol. 29:246-260 15 126. Vanniarajan A, Owens KM, Desouki MM, Liang P, Bakin A, Thangaraj K, Buchsbaum DJ, LoBuglio AF, Singh KK (2011) Cellular model of Warburg effect identifies tumor promoting function of UCP2 in breast cancer and its suppression by genipin. PLoS One . 6: e24792 127. Rani DS, Nallari P, Dhandapany PS, Tamilarasi S, Shah A, Archana V, AshokKumar M, Narasimhan C, Singh L, Thangaraj K (2011) Cardiac Troponin T (TNNT2) mutations are less prevalent in Indian hypertrophic cardiomyopathy patients. DNA Cell Biol. (in press). 128. Kulkarni GD, Kulkarni SS, Kadakol GS, Kulkarni BB, Kyamangoudar PH, Lakkakula BV, Thangaraj K, Shepur TA, Kulkarni ML, Gai PB (2011) Molecular Basis of β-Thalassemia in Karnataka, India. Genet Test Mol Biomarkers. 16:138-141. 129. Metspalu M, Romero IG, Yunusbayev B, Chaubey G, Mallick CB, Hudjashov G, Nelis M, Magi R, Metspalu E, Remm M, Pitchappan R, Singh L, Thangaraj K, Villems R, Kivisild T (2011) Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia. Am. J. Hum. Genet. 89:731-744 130. Mehrotra S, Fakiola M, Oommen J, Jamieson SE, Mishra A, Sudarshan M, Tiwary P, Rani DS, Thangaraj K, Rai M, Sundar S, Blackwell JM (2011) Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India. BMC Med Genet. 12:162. 131. Suresh A, Vannan M, Kumaran D, Gümüs ZH, Sivadas P, Murugaian EE, Kekatpure V, Iyer S, Thangaraj K, Kuriakose MA (2012) Resistance/response molecular signature for oral tongue squamous cell carcinoma. Dis Markers. 32: 51-64. 132. RK Pandey, D Pratap Singh, G Sudhakar, K Thangaraj, VR Rao (2012) Standardization of PCR conditions for an Ancient DNA Amplification. Intl. J. Hum. Sci. 9: 102-109 133. Bhaskar LV, Thangaraj K, Patel M, Shah AM, Gopal K, Saikrishna L, Tamang R, Singh L, Rao VR (2012) EPHX1 Gene Polymorphisms in Alcohol Dependence and their Distribution among the Indian Populations. Am J Drug Alcohol Abuse. Jan 19 [Epub ahead of print] 134. Sharma G, Tamang R, Chaudhary R, Singh VK, Shah AM, Anugula S, Rani DS, Reddy AG, Eaaswarkhanth M, Chaubey G, Singh L, Thangaraj K (2012) Genetic affinities of the Central Indian tribal populations. PLoS ONE 7: e32546 16