Abstract
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 and small sets of nuclear markers have shown that these hunter-gatherers, known as Khoisan, San, or Bushmen, are genetically divergent from other humans. However, until now, fully sequenced human genomes have been limited to recently diverged populations. 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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 943-947 |
| Number of pages | 5 |
| Journal | Nature |
| Volume | 463 |
| Issue number | 7283 |
| DOIs | |
| State | Published - Feb 18 2010 |
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Complete Khoisan and Bantu genomes from southern Africa. / Schuster, Stephan C.; Miller, Webb; Ratan, Aakrosh; Tomsho, Lynn P.; Giardine, Belinda; Kasson, Lindsay R.; Harris, Robert Scott; Petersen, Desiree C.; Zhao, Fangqing; Qi, Ji; Alkan, Can; Kidd, Jeffrey M.; Sun, Yazhou; Drautz, Daniela I.; Bouffard, Pascal; Muzny, Donna M.; Reid, Jeffrey G.; Nazareth, Lynne V.; Wang, Qingyu; Burhans, Richard; Riemer, Cathy; Wittekindt, Nicola E.; Moorjani, Priya; Tindall, Elizabeth A.; Danko, Charles G.; Teo, Wee Siang; Buboltz, Anne M.; Zhang, Zhenhai; Ma, Qianyi; Oosthuysen, Arno; Steenkamp, Abraham W.; Oostuisen, Hermann; Venter, Philippus; Gajewski, John; Zhang, Yu; Pugh, Benjamin Franklin; Makova, Kateryna Dmytrivna; Nekrutenko, Anton; Mardis, Elaine R.; Patterson, Nick; Pringle, Tom H.; Chiaromonte, Francesca; Mullikin, James C.; Eichler, Evan E.; Hardison, Ross Cameron; Gibbs, Richard A.; Harkins, Timothy T.; Hayes, Vanessa M.
In: Nature, Vol. 463, No. 7283, 18.02.2010, p. 943-947.Research output: Contribution to journal › Article
TY - JOUR
T1 - Complete Khoisan and Bantu genomes from southern Africa
AU - Schuster, Stephan C.
AU - Miller, Webb
AU - Ratan, Aakrosh
AU - Tomsho, Lynn P.
AU - Giardine, Belinda
AU - Kasson, Lindsay R.
AU - Harris, Robert Scott
AU - Petersen, Desiree C.
AU - Zhao, Fangqing
AU - Qi, Ji
AU - Alkan, Can
AU - Kidd, Jeffrey M.
AU - Sun, Yazhou
AU - Drautz, Daniela I.
AU - Bouffard, Pascal
AU - Muzny, Donna M.
AU - Reid, Jeffrey G.
AU - Nazareth, Lynne V.
AU - Wang, Qingyu
AU - Burhans, Richard
AU - Riemer, Cathy
AU - Wittekindt, Nicola E.
AU - Moorjani, Priya
AU - Tindall, Elizabeth A.
AU - Danko, Charles G.
AU - Teo, Wee Siang
AU - Buboltz, Anne M.
AU - Zhang, Zhenhai
AU - Ma, Qianyi
AU - Oosthuysen, Arno
AU - Steenkamp, Abraham W.
AU - Oostuisen, Hermann
AU - Venter, Philippus
AU - Gajewski, John
AU - Zhang, Yu
AU - Pugh, Benjamin Franklin
AU - Makova, Kateryna Dmytrivna
AU - Nekrutenko, Anton
AU - Mardis, Elaine R.
AU - Patterson, Nick
AU - Pringle, Tom H.
AU - Chiaromonte, Francesca
AU - Mullikin, James C.
AU - Eichler, Evan E.
AU - Hardison, Ross Cameron
AU - Gibbs, Richard A.
AU - Harkins, Timothy T.
AU - Hayes, Vanessa M.
PY - 2010/2/18
Y1 - 2010/2/18
N2 - 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 and small sets of nuclear markers have shown that these hunter-gatherers, known as Khoisan, San, or Bushmen, are genetically divergent from other humans. However, until now, fully sequenced human genomes have been limited to recently diverged populations. 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.
AB - 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 and small sets of nuclear markers have shown that these hunter-gatherers, known as Khoisan, San, or Bushmen, are genetically divergent from other humans. However, until now, fully sequenced human genomes have been limited to recently diverged populations. 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.
UR - http://www.scopus.com/inward/record.url?scp=77249155642&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77249155642&partnerID=8YFLogxK
U2 - 10.1038/nature08795
DO - 10.1038/nature08795
M3 - Article
C2 - 20164927
AN - SCOPUS:77249155642
VL - 463
SP - 943
EP - 947
JO - Nature
JF - Nature
SN - 0028-0836
IS - 7283
ER -