Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers

被引：213

作者：

Lachance, Joseph ^{[1
,2
]}

Vernot, Benjamin ^{[4
]}

Elbers, Clara C. ^{[1
,2
]}

Ferwerda, Bart ^{[1
,2
]}

Froment, Alain ^{[5
]}

Bodo, Jean-Marie ^{[6
]}

Lema, Godfrey ^{[7
]}

Fu, Wenqing ^{[4
]}

Nyambo, Thomas B. ^{[7
]}

Rebbeck, Timothy R. ^{[3
]}

Zhang, Kun ^{[8
,9
]}

Akey, Joshua M. ^{[4
]}

Tishkoff, Sarah A. ^{[1
,2
]}

机构：

[1] Univ Penn, Dept Biol, Philadelphia, PA 19104 USA

[2] Univ Penn, Dept Genet, Philadelphia, PA 19104 USA

[3] Univ Penn, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA

[4] Univ Washington, Dept Genome Sci, Seattle, WA 98185 USA

[5] Musee Homme Paris, IRD MNHN, F-75116 Paris, France

[6] Minist Rech Sci & Innovat, Yaounde, Cameroon

[7] Muhimbili Univ, Dept Biochem, Coll Hlth Sci, Dar Es Salaam, Tanzania

[8] Univ Calif San Diego, Inst Genom Med, Dept Bioengn, San Diego, CA 92093 USA

[9] Univ Calif San Diego, Inst Engn Med, San Diego, CA 92093 USA

来源：

CELL | 2012年 / 150卷 / 03期

基金：

美国国家科学基金会;

关键词：

POPULATION-STRUCTURE; GROWTH-HORMONE; MODERN HUMANS; GENETIC-VARIATION; WIDE ASSOCIATION; DISORDERS; MUTATIONS; ADMIXTURE; SELECTION; VARIANCE;

D O I：

10.1016/j.cell.2012.07.009

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 intro-gression 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.

引用

页码：457 / 469

页数：13

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