Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers.
Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers.
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DOI：
10.1016/j.cell.2012.07.009
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发表时间：
2012-08-03
期刊：
影响因子：
64.5
通讯作者：
Tishkoff SA
中科院分区：
文献类型：
--
作者：
Lachance J;Vernot B;Elbers CC;Ferwerda B;Froment A;Bodo JM;Lema G;Fu W;Nyambo TB;Rebbeck TR;Zhang K;Akey JM;Tishkoff SA
为了重建现代人类进化史并确定塑造狩猎采集者适应的基因座，我们对三个不同狩猎采集者群体中的五个个体的全基因组进行了测序，覆盖率> 60倍：来自喀麦隆的俾格米人和来自坦桑尼亚的讲Khoesan语的Hadza和Sandawe。我们确定了1340万个变异，大大增加了已知的人类变异。我们发现在所有三个人群中的古老的基因渗入的证据和时间的分布，最近的共同祖先从这些地区是类似的，在欧洲人的基因渗入地区观察。此外，我们还发现了许多具有局部适应特征的基因座，包括参与免疫、代谢、嗅觉和味觉、生殖和伤口愈合的基因。在俾格米人群体中，我们发现了多个高度分化的基因座，这些基因座在生长和垂体前叶功能中发挥作用，并与身高相关。
To reconstruct modern human evolutionary history and identify loci that have shaped hunter-gatherer adaptation, we sequenced the whole-genomes of five individuals in each of three different hunter-gatherer populations at > 60x coverage: Pygmies from Cameroon and Khoesan-speaking Hadza and Sandawe from Tanzania. We identify 13.4 million variants, substantially increasing the set of known human variation. We found evidence of archaic introgression in all three populations and the distribution of time to most recent common ancestors from these regions is similar to that observed for introgressed regions in Europeans. Additionally, we identify numerous loci that harbor signatures of local adaptation, including genes involved in immunity, metabolism, olfactory and taste perception, reproduction, and wound healing. Within the Pygmy population, we identify multiple highly differentiated loci that play a role in growth and anterior pituitary function and are associated with height.
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DOI：
10.1016/j.cub.2009.11.050
发表时间：
2010-02-23
期刊：
Current biology : CB
影响因子：
--
作者：
Campbell MC;Tishkoff SA
通讯作者：
Tishkoff SA
影响因子：
9.8
作者：
Behar, Doron M.;Villems, Richard;Rosset, Saharon
通讯作者：
Rosset, Saharon
影响因子：
--
作者：
Gat-Yablonski, G.;Lazar, L.;Phillip, M.
通讯作者：
Phillip, M.
影响因子：
5.6
作者：
Hunsaker, Tamra L.;Jefferson, Holly S.;Shewchuk, Brian M.
通讯作者：
Shewchuk, Brian M.
影响因子：
46.9
作者：
通讯作者：
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