Arid
DOI10.1038/nature08795
Complete Khoisan and Bantu genomes from southern Africa
Schuster, Stephan C.1; Miller, Webb1; Ratan, Aakrosh1; Tomsho, Lynn P.1; Giardine, Belinda1; Kasson, Lindsay R.1; Harris, Robert S.1; Petersen, Desiree C.2; Zhao, Fangqing1; Qi, Ji1; Alkan, Can3,4; Kidd, Jeffrey M.3,4; Sun, Yazhou1; Drautz, Daniela I.1; Bouffard, Pascal5; Muzny, Donna M.6; Reid, Jeffrey G.6; Nazareth, Lynne V.6; Wang, Qingyu1; Burhans, Richard1; Riemer, Cathy1; Wittekindt, Nicola E.1; Moorjani, Priya7; Tindall, Elizabeth A.2; Danko, Charles G.8; Teo, Wee Siang2; Buboltz, Anne M.1; Zhang, Zhenhai1; Ma, Qianyi1; Oosthuysen, Arno; Steenkamp, Abraham W.; Oostuisen, Hermann; Venter, Philippus9; Gajewski, John1; Zhang, Yu1; Pugh, B. Franklin1; Makova, Kateryna D.1; Nekrutenko, Anton1; Mardis, Elaine R.10; Patterson, Nick11,12; Pringle, Tom H.13; Chiaromonte, Francesca1; Mullikin, James C.14; Eichler, Evan E.3,4; Hardison, Ross C.1; Gibbs, Richard A.6; Harkins, Timothy T.5; Hayes, Vanessa M.2
通讯作者Schuster, Stephan C.
来源期刊NATURE
ISSN0028-0836
EISSN1476-4687
出版年2010
卷号463期号:7283页码:943-947
英文摘要

The genetic structure of the indigenous hunter-gatherer peoples of southern Africa, the oldest known lineage of modern human, is important for understanding human diversity. Studies based on mitochondrial(1) and small sets of nuclear markers(2) have shown that these hunter-gatherers, known as Khoisan, San, or Bushmen, are genetically divergent from other humans(1,3). However, until now, fully sequenced human genomes have been limited to recently diverged populations(4-8). Here we present the complete genome sequences of an indigenous hunter-gatherer from the Kalahari Desert and a Bantu from southern Africa, as well as protein-coding regions from an additional three hunter-gatherers from disparate regions of the Kalahari. We characterize the extent of whole-genome and exome diversity among the five men, reporting 1.3 million novel DNA differences genome-wide, including 13,146 novel amino acid variants. In terms of nucleotide substitutions, the Bushmen seem to be, on average, more different from each other than, for example, a European and an Asian. Observed genomic differences between the hunter-gatherers and others may help to pinpoint genetic adaptations to an agricultural lifestyle. Adding the described variants to current databases will facilitate inclusion of southern Africans in medical research efforts, particularly when family and medical histories can be correlated with genome-wide data.


类型Article
语种英语
国家USA ; Australia ; South Africa
收录类别SCI-E
WOS记录号WOS:000274582700045
WOS关键词COPY NUMBER ; SEQUENCE ; INVERSION ; MTDNA ; GENE
WOS类目Multidisciplinary Sciences
WOS研究方向Science & Technology - Other Topics
资源类型期刊论文
条目标识符http://119.78.100.177/qdio/handle/2XILL650/165737
作者单位1.Penn State Univ, Ctr Comparat Genom & Bioinformat, Wartik Lab 310, University Pk, PA 16802 USA;
2.Univ New S Wales, Lowy Canc Res Ctr C25, Childrens Canc Inst Australia Med Res, Canc Genet Grp, Randwick, NSW 2031, Australia;
3.Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA;
4.Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA;
5.Roche Diagnostics Corp, Indianapolis, IN 46250 USA;
6.Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA;
7.Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA;
8.Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14853 USA;
9.Univ Limpopo, ZA-0727 Sovenga, South Africa;
10.Washington Univ, Sch Med, Genome Ctr, St Louis, MO 63108 USA;
11.MIT, Broad Inst, Cambridge, MA 02142 USA;
12.Harvard Univ, Cambridge Ctr, Cambridge, MA 02142 USA;
13.Sperling Fdn, Eugene, OR 97405 USA;
14.NHGRI, NIH, Bethesda, MD 20892 USA
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GB/T 7714
Schuster, Stephan C.,Miller, Webb,Ratan, Aakrosh,et al. Complete Khoisan and Bantu genomes from southern Africa[J],2010,463(7283):943-947.
APA Schuster, Stephan C..,Miller, Webb.,Ratan, Aakrosh.,Tomsho, Lynn P..,Giardine, Belinda.,...&Hayes, Vanessa M..(2010).Complete Khoisan and Bantu genomes from southern Africa.NATURE,463(7283),943-947.
MLA Schuster, Stephan C.,et al."Complete Khoisan and Bantu genomes from southern Africa".NATURE 463.7283(2010):943-947.
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