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

Journal article published in 2007 by Pc Sabeti, Pi de Bakker, Liuda Ziaugra, Qin Zs, Changqing Zeng, S. A. McCarroll, Hui Zhao, Patrick Varilly, K. A. Frazer, D. G. Ballinger, Fuli Yu, D. R. Cox, Huanming Yang, D. A. Hinds, Song Yq and other authors.
This paper is available in a repository.
This paper is available in a repository.

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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)1. We used ‘long-range haplotype’ methods, which were developed to identify alleles segregating in a population that have undergone recent selection2, 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 virus3, in West Africa; SLC24A5 and SLC45A2, both involved in skin pigmentation4,5, in Europe; and EDAR and EDA2R, both involved in development of hair follicles6, in Asia.