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PMID: 17360595 Published · ppublish English Journal Article Research Support, N.I.H., Extramural

A population genetics model with recombination hotspots that are heterogeneous across the population.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 104 ·No. 11 ·2007-03-13 ·Pages 4748-52

Calabrese P

Abstract

Both sperm typing and linkage disequilibrium patterns from large population genetic data sets have demonstrated that recombination hotspots are responsible for much of the recombination activity in the human genome. Sperm typing has also revealed that some hotspots are heterogeneous in the population; and linkage disequilibrium patterns from the chimpanzee have implied that hotspots change at least on the separation time between these species. We propose a population genetics model, inspired by the double-strand break model, which features recombination hotspots that are heterogeneous across the population and whose population frequency changes with time. We have derived a diffusion approximation and written a coalescent simulation program. This model has implications for the "hotspot paradox."

MeSH Terms
Animals Chromosomes/metabolism Genetics, Population Genome, Human Humans Linkage Disequilibrium Male Models, Genetic Models, Statistical Models, Theoretical Pan troglodytes Population Groups Recombination, Genetic Spermatozoa/metabolism
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Calabrese Peter
Molecular and Computational Biology, University of Southern California, 1050 Childs Way, Los Angeles, CA 90089-2910, USA. petercal@usc.edu
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.0610195104
Email
petercal@usc.edu
Published
2007-03-13
Epub
2007-00-05
Pages
4748-52
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC1838671
Subset
IM
Grants
NHGRI NIH HHS · P50 HG002790 · United States
NHGRI NIH HHS · P50 HG 002790 · United States
External Links
PubMed source DOI: 10.1073/pnas.0610195104 PMC Full Text View journal details
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