Chapter 5: Linkage, Recombination, and the Mapping of Genes on Chromosomes When available, the links under the Suggested Readings section will take you to websites that either provide free electronic full-text versions of these references, or links to online abstracts. All of these abstracts are themselves free. Many of the abstract sites contain links to online full-text versions of the references; some of these full-text versions are free, while others require personal or institutional subscriptions. None of the sites that can be accessed through the links below are affiliated with McGraw-Hill Publishers. The Early History of Genetic Mapping Suggested Readings Creighton H.B. and B. McClintock. 1931. A Correlation of Cytological and Genetical Crossing-over in Zea mays. PNAS 17(8): 492-497 [full text link] Although Alfred Sturtevant had provided the initial evidence that crossing over occurs on chromosomes when he developed the first genetic linkage map in 1911, it was not until this paper was released that proof of crossing over was established. Stern, C. 1936. Somatic Crossing-over and Segregation in Drosophila melanogaster. Genetics 21:625-631. [full-text link] A paper that describes the relationship between crossing over and chromosome segregation in Drosphila. It notes that rates of crossing over may vary between the sex and autosomal chromosomes. Sturtevant, A.H. 1913. The linear arrangement of six sex-linked factors in Drosophila, as shown by their mode of association. Journal of Experimental Zoology. 14: 43-59. [full-text link] Using sex-linked traits in Drosophila, Alfred Sturtevant was able to construct the first genetic linkage map. In this paper he outlines many of the procedures still in use today for analyzing recombinants to establish linkage. Websites Genome Mapping at NCBI http://www.ncbi.nlm.nih.gov/About/primer/mapping.html This site describes the differences between genetic and physical maps. It also provides the definitions of commonly used markers in mapping.3 Electronic Scholarly Publishing http://www.esp.org/ This site contains full-text copies of many of the early articles by Alfred Sturtevant which outline his ideas on genetic linkage mapping. Chapter5 1 Construction of a Linkage Map of the Human Genome Suggested Readings Dawson, E., Abecasis GR, S. Bumpstead et al. 2002. A First-generation Linkage Disequilibrium Map of Human Chromosome 22. Nature. 418(6897):544-548. [Entrez-PubMed link] One of the early papers describing the generation of a linkage map for a human chromosome. Kong, X., K. Murphy, T Raj et al. 2004. A Combined Linkage-Physical Map of the Human Genome. Am J Hum Genet. 75(6):1143-1148. [Entrez-PubMed link] The researchers in this paper utilized over 14,000 SNPs to construct a linkage map of the human genome. Nievergelt, CM, DW Smith, JB Kohlenberg and NJ Shork. 2004. Large-scale Integration of Human Genetic and Physical Maps. Genome Res. 14(6):1199-1205. [Entrez-PubMed link] Using microsatellite markers and sequence data from the Human Genome Project, the authors of this paper produced sex-specific genetic linkage maps of the human genome. Websites Human Genome Project Information: http://www.ornl.gov/sci/techresources/Human_Genome/research/mapping.shtml This link takes you to the chromosome mapping information page within the Human Genome Project website. The Cooperative Human Linkage Center (CHLC) http://gai.nci.nih.gov/CHLC/ This site provides links to a variety of linkage maps of the human genome. Comparisons of genetic linkage maps and physical maps are provided for each chromosome. Online Mendelian Inheritance in Man (OMIM): http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/map .shtml This site provides instructions on how to locate genes on a chromosome map and how to interpret linkage and physical map data. Chapter5 2 New Ideas about the Significance of Chromosomal Interference Suggested Readings Housworth, EA and FW Stahl. 2003. Crossover Interference in Humans. Am J Hum Genet. 73(1):188-197. [Entrez-PubMed link] This paper presents evidence that crossing over events in humans belong to two distinct classes, only one of which is influenced by interference. The authors suggest that this may serve as a form of regulatory event. Lin, S., R. Cheng and FA Wright. 2001. Genetic Crossover Interference in the Human Genome. Ann Hum Genet. 65(Pt 1):79-93. [Entrez-PubMed link] This paper presents evidence of positive interference in the human genome and that the rates of positive interference are consistent throughout the genome. Turney, D., T. de los Santos, NM Hollingsworth. 2004. Does Chromosome Size Affect Map Distance and Genetic Interference in Budding Yeast? Genetics 168(4):2421-2424. [full text link] Yeast is often used as a model organism for studying eukaryotic genetics. In the papers the authors determine that the size of the chromosome has no influence on the rates of interference or recombination. Websites ScienceWeek http://scienceweek.com/2005/sb050225-1.htm This web page provides a summary of several articles from Science Week on the topic of crossing over and genetic recombination. The major points of the articles are listed, as well as a brief bibliography of additional research articles. Using Mitotic Recombination to Trace Cells During Development Suggested Readings Blair, SS. Genetic Mosaic Techniques for Studying Drosophila Development. 2003. 5065-5072. Development 130: [full-text link] This article reviews the major procedures, including mitotic recombination, used to generate genetic mosaics in Drosophila. The paper discussed the importance of these techniques in understanding the process of development in eukaryotic organisms. Zugates, CT and T. Lee. 2004. Genetic Mosaic Analysis in the Nervous System. Curr Opin Neurobiol.14(5):647-653 [Entrez-PubMed link] This paper discussed how genetic mosaic analysis can be used to understand the development of the human nervous system. Specifically, it is possible to use mosaics to establish cell lineages. Chapter5 3