Genome-wide detection and characterization of positive selection in human populations.
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| Abstract | With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia. |
| Year of Publication | 2007
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| Journal | Nature
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| Volume | 449
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| Issue | 7164
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| Pages | 913-8
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| Date Published | 2007 Oct 18
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| ISSN | 1476-4687
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| URL | |
| DOI | 10.1038/nature06250
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| PubMed ID | 17943131
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| PubMed Central ID | PMC2687721
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| Grant list | 077008 / Wellcome Trust / United Kingdom
077011 / Wellcome Trust / United Kingdom
077046 / Wellcome Trust / United Kingdom
081682 / Wellcome Trust / United Kingdom
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