Chapter 5: Linkage, Recombination, and the Mapping of Genes on

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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.
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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.
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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.
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