全球人类群体样本中近期正向选择的信号。

Signals of recent positive selection in a worldwide sample of human populations.

作者信息

Pickrell Joseph K, Coop Graham, Novembre John, Kudaravalli Sridhar, Li Jun Z, Absher Devin, Srinivasan Balaji S, Barsh Gregory S, Myers Richard M, Feldman Marcus W, Pritchard Jonathan K

机构信息

Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.

出版信息

Genome Res. 2009 May;19(5):826-37. doi: 10.1101/gr.087577.108. Epub 2009 Mar 23.

Abstract

Genome-wide scans for recent positive selection in humans have yielded insight into the mechanisms underlying the extensive phenotypic diversity in our species, but have focused on a limited number of populations. Here, we present an analysis of recent selection in a global sample of 53 populations, using genotype data from the Human Genome Diversity-CEPH Panel. We refine the geographic distributions of known selective sweeps, and find extensive overlap between these distributions for populations in the same continental region but limited overlap between populations outside these groupings. We present several examples of previously unrecognized candidate targets of selection, including signals at a number of genes in the NRG-ERBB4 developmental pathway in non-African populations. Analysis of recently identified genes involved in complex diseases suggests that there has been selection on loci involved in susceptibility to type II diabetes. Finally, we search for local adaptation between geographically close populations, and highlight several examples.

摘要

全基因组扫描人类近期的正向选择,有助于深入了解我们物种广泛表型多样性背后的机制,但这些扫描主要集中在少数人群上。在此,我们利用人类基因组多样性-CEPH 面板的基因型数据,对全球 53 个人群的近期选择进行了分析。我们细化了已知选择性清除的地理分布,发现同一大陆区域人群的这些分布之间存在广泛重叠,但这些分组之外的人群之间重叠有限。我们展示了几个以前未被识别的选择候选靶点的例子,包括非非洲人群中 NRG-ERBB4 发育途径中多个基因的信号。对最近鉴定出的参与复杂疾病的基因的分析表明,在与 II 型糖尿病易感性相关的基因座上存在选择。最后,我们寻找地理上相邻人群之间的局部适应性,并突出了几个例子。

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