Signals of recent positive selection in a worldwide sample of human populations
Signals of recent positive selection in a worldwide sample of human populations
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DOI：
10.1101/gr.087577.108
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发表时间：
2009-05-01
期刊：
影响因子：
7
通讯作者：
Pritchard, Jonathan K.
中科院分区：
文献类型：
--
作者：
Pickrell, Joseph K.;Coop, Graham;Pritchard, Jonathan K.
全基因组在人类中的近期肯定选择已经深入了解了我们物种广泛的表型多样性的基础机制，但专注于有限的人群。在这里，我们使用人类基因组多样性CEPH面板的基因型数据进行了全球53个人群样本中最近选择的分析。我们完善了已知的选择性扫描的地理分布，并在同一大陆地区的这些人群之间找到这些分布之间的广泛重叠，但是这些分组以外的人群之间的重叠有限。我们介绍了以前未被认可的选择目标的几个示例，包括非非洲人群NRG-ERBB4发育途径中许多基因的信号。对最近鉴定出的复杂疾病基因的分析表明，对II型糖尿病的敏感性涉及的基因座进行了选择。最后，我们在地理位置关闭人群之间寻找局部适应，并突出显示了几个示例。
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.