Genome-wide detection and characterization of positive selection in human populations

Article

关键词: DEATH DOMAIN;    NMR STRUCTURE;    RECOMBINATION;    POLYMORPHISMS;    PIGMENTATION;    GENE;   

DOI  :  10.1038/nature06250

来源: SCIE

【 摘 要 】

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)(1). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection(2), 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(3), in West Africa; SLC24A5 and SLC45A2, both involved in skin pigmentation(4,5), in Europe; and EDAR and EDA2R, both involved in development of hair follicles(6), in Asia.

【 授权许可】

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