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PMID: 20361044 Published · epublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Human population differentiation is strongly correlated with local recombination rate.

PLoS genetics ·Vol. 6 ·No. 3 ·2010-03-26 ·Pages e1000886

Keinan A, Reich D

Abstract

Allele frequency differences across populations can provide valuable information both for studying population structure and for identifying loci that have been targets of natural selection. Here, we examine the relationship between recombination rate and population differentiation in humans by analyzing two uniformly-ascertained, whole-genome data sets. We find that population differentiation as assessed by inter-continental F(ST) shows negative correlation with recombination rate, with F(ST) reduced by 10% in the tenth of the genome with the highest recombination rate compared with the tenth of the genome with the lowest recombination rate (P<<10(-12)). This pattern cannot be explained by the mutagenic properties of recombination and instead must reflect the impact of selection in the last 100,000 years since human continental populations split. The correlation between recombination rate and F(ST) has a qualitatively different relationship for F(ST) between African and non-African populations and for F(ST) between European and East Asian populations, suggesting varying levels or types of selection in different epochs of human history.

MeSH Terms
Gene Frequency Genetics, Population Humans Polymorphism, Single Nucleotide Racial Groups/genetics Recombination, Genetic
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Keinan Alon
Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America. [email protected]
Reich David
Conflict of Interest

The authors have declared that no competing interests exist.

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Article Info
Journal
PLoS genetics
Abbr.
PLoS Genet
ISSN
1553-7404
DOI
10.1371/journal.pgen.1000886
Email
[email protected]
Published
2010-03-26
Epub
2010-00-26
Pages
e1000886
Language
English
Region
United States
NLM ID
101239074
PMCID
PMC2845648
Subset
IM
Grants
NHGRI NIH HHS · U01 HG004168 · United States
External Links
PubMed source DOI: 10.1371/journal.pgen.1000886 PMC Full Text View journal details
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