Hunter-gatherer genomic diversity suggests a southern African origin for modern humans

被引：263

作者：

Henn, Brenna M. ^{[1
]}

Gignoux, Christopher R. ^{[2
]}

Jobin, Matthew ^{[3
,4
]}

Granka, Julie M. ^{[5
]}

Macpherson, J. M. ^{[6
]}

Kidd, Jeffrey M. ^{[1
]}

Rodriguez-Botigue, Laura ^{[7
]}

Ramachandran, Sohini ^{[8
]}

Hon, Lawrence ^{[6
]}

Brisbin, Abra ^{[9
]}

Lin, Alice A. ^{[10
]}

Underhill, Peter A. ^{[10
]}

Comas, David ^{[7
]}

Kidd, Kenneth K. ^{[11
]}

Norman, Paul J. ^{[12
]}

Parham, Peter ^{[12
]}

Bustamante, Carlos D. ^{[1
]}

Mountain, Joanna L. ^{[6
]}

Feldman, Marcus W. ^{[5
]}

机构：

[1] Stanford Univ, Dept Genet, Stanford, CA 94305 USA

[2] Univ Calif San Francisco, San Francisco, CA 94158 USA

[3] Santa Clara Univ, Dept Anthropol, Santa Clara, CA 95050 USA

[4] Stanford Univ, Dept Anthropol, Stanford, CA 94305 USA

[5] Stanford Univ, Dept Biol Sci, Stanford, CA 94305 USA

[6] 23&Me Inc, Mountain View, CA 94043 USA

[7] Univ Pompeu Fabra, Inst Evolutionary Biol, Barcelona 08003, Spain

[8] Brown Univ, Dept Ecol & Evolutionary Biol, Providence, RI 02912 USA

[9] Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14850 USA

[10] Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA

[11] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA

[12] Stanford Univ, Dept Biol Struct, Stanford, CA 94305 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2011年 / 108卷 / 13期

关键词：

human evolution; population genetics; Khoisan; LINKAGE DISEQUILIBRIUM; HUMAN-POPULATIONS; Y-CHROMOSOME; GENETIC-STRUCTURE; WIDE PATTERNS; HISTORY; ASSOCIATION; HAPLOTYPE; EVOLUTION; LINEAGES;

D O I：

10.1073/pnas.1017511108

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

070301 [无机化学]; 070403 [天体物理学]; 070507 [自然资源与国土空间规划学]; 090105 [作物生产系统与生态工程];

摘要：

Africa is inferred to be the continent of origin for all modern human populations, but the details of human prehistory and evolution in Africa remain largely obscure owing to the complex histories of hundreds of distinct populations. We present data for more than 580,000 SNPs for several hunter-gatherer populations: the Hadza and Sandawe of Tanzania, and the not equal Khomani Bushmen of South Africa, including speakers of the nearly extinct Nlu language. We find that African hunter-gatherer populations today remain highly differentiated, encompassing major components of variation that are not found in other African populations. Hunter-gatherer populations also tend to have the lowest levels of genome-wide linkage disequilibrium among 27 African populations. We analyzed geographic patterns of linkage disequilibrium and population differentiation, as measured by F-ST, in Africa. The observed patterns are consistent with an origin of modern humans in southern Africa rather than eastern Africa, as is generally assumed. Additionally, genetic variation in African hunter-gatherer populations has been significantly affected by interaction with farmers and herders over the past 5,000 y, through both severe population bottlenecks and sex-biased migration. However, African hunter-gatherer populations continue to maintain the highest levels of genetic diversity in the world.

引用

页码：5154 / 5162

页数：9

共 55 条

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