Complex patterns of genomic admixture within southern Africa.
Complex patterns of genomic admixture within southern Africa.
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DOI：
10.1371/journal.pgen.1003309
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发表时间：
2013
期刊：
影响因子：
4.5
通讯作者：
Hayes VM
中科院分区：
文献类型：
--
作者：
Petersen DC;Libiger O;Tindall EA;Hardie RA;Hannick LI;Glashoff RH;Mukerji M;Indian Genome Variation Consortium;Fernandez P;Haacke W;Schork NJ;Hayes VM
非洲人口内的遗传多样性最高，而人口间的遗传多样性则与地理距离成正比。当代最多样化的人群包括南部非洲讲咔嗒声的采集者民族，广义上称为科桑人（Khoesan）。内部（班图扩张）和洲际移民（欧洲驱动的殖民化）都导致了古代地理上孤立的科桑族和最近分散的族群之间复杂的混合模式。利用性别特异性分析和近 100 万个常染色体标记，我们确定了估计祖先贡献的重要性，这些贡献塑造了 103 人队列中的 5 个当代南部非洲人口。由于缺乏同质 Khoesan 表征的可用数据，我们将 Ju/'hoan (n = 19) 确定为一个独特的早期分化人类谱系，几乎没有或没有显着的非 Khoesan 贡献。与 Ju/'hoan 相比，我们发现了 Khoesan 和班图联盟的古代特征，分别对南部班图 amaXhosa (n = 15) 和 Khoesan !Xun (n = 14) 做出了重大的 Khoesan 和班图贡献。我们的数据进一步表明，当代的!Xun代表了独特的Khoesan史前史。科桑与欧洲最南端定居点的同化导致科桑祖先对有色人种 (n = 25) 和巴斯特 (n = 30) 人口做出了重大贡献。后者人口进一步受到 170 年东印度奴隶贸易和大陆内移民的影响，导致了复杂的遗传变异模式（混合）。南部非洲的人口提供了一个独特的机会来研究从一些最古老的人类谱系的基因组变异到包括古代和最近分化的人类谱系在内的复杂混合模式的影响。科桑人最近受到关注，因为他们是当代基因最多样化的人群。然而，科桑族群的定义并不明确，而考古证据表明，讲咔嗒声的南部非洲采集者曾一度广泛分布。大约 1,500 年前，班图族人向当代科桑人居住的地区进行了移民，一千多年后，欧洲殖民者到来，为欧洲和东方之间的海上航线建立了中转站，从而导致了全球不同人口之间的结合。我们使用 103 个人的近百万个遗传标记，证实了 Khoesan 对 5 个南部非洲人口的重大贡献。 Ju/'hoan人表现出基因隔离（与所有其他现代人类的早期分歧），没有显着的非Khoesan贡献，并且与大多数全球人口不同的是，他们缺乏基于基因的农业适应特征。 !Xun 展示了两种截然不同的 Khoesan 史前史；虽然与女性科桑人对阿玛科萨班图人的贡献相比，男性班图人对!Xun的贡献很可能代表了文化驱动的性别偏见基因流。巴斯特人主要源自欧洲男性祖先的贡献，表现出最高的母性科桑贡献，而有色人种则表现出最大的人口和区域相关变异。后两个种群的独特混合比例反映了早期分化和最近分化的人类谱系。
Within-population genetic diversity is greatest within Africa, while between-population genetic diversity is directly proportional to geographic distance. The most divergent contemporary human populations include the click-speaking forager peoples of southern Africa, broadly defined as Khoesan. Both intra- (Bantu expansion) and inter-continental migration (European-driven colonization) have resulted in complex patterns of admixture between ancient geographically isolated Khoesan and more recently diverged populations. Using gender-specific analysis and almost 1 million autosomal markers, we determine the significance of estimated ancestral contributions that have shaped five contemporary southern African populations in a cohort of 103 individuals. Limited by lack of available data for homogenous Khoesan representation, we identify the Ju/'hoan (n = 19) as a distinct early diverging human lineage with little to no significant non-Khoesan contribution. In contrast to the Ju/'hoan, we identify ancient signatures of Khoesan and Bantu unions resulting in significant Khoesan- and Bantu-derived contributions to the Southern Bantu amaXhosa (n = 15) and Khoesan !Xun (n = 14), respectively. Our data further suggests that contemporary !Xun represent distinct Khoesan prehistories. Khoesan assimilation with European settlement at the most southern tip of Africa resulted in significant ancestral Khoesan contributions to the Coloured (n = 25) and Baster (n = 30) populations. The latter populations were further impacted by 170 years of East Indian slave trade and intra-continental migrations resulting in a complex pattern of genetic variation (admixture). The populations of southern Africa provide a unique opportunity to investigate the genomic variability from some of the oldest human lineages to the implications of complex admixture patterns including ancient and recently diverged human lineages. The Khoesan have received recent attention, as they are the most genetically diverse contemporary human populations. However, Khoesan populations are poorly defined, while archeological evidence suggests a once broader dispersal of click-speaking southern African foragers. Migrations into the regions populated by contemporary Khoesan involved agro-pastoral Bantu around 1,500 years ago, followed over a millennium later by the arrival of European colonists establishing a halfway station for a maritime route between Europe and the East, which led to unions between diverse global populations. Using almost a million genetic markers for 103 individuals, we confirmed a significant Khoesan contribution to five southern African populations. The Ju/'hoan show genetic isolation (early divergence from all other modern humans), carry no significant non-Khoesan contributions, and unlike most global populations lack signatures of gene-based adaption to agriculture. The !Xun show two distinct Khoesan prehistories; while comparable to the female-derived Khoesan contribution to the amaXhosa Bantu, the male-derived Bantu contribution to the !Xun most likely represents cultural-driven gender-biased gene-flow. Emanating largely from male-derived European ancestral contributions, the Basters showed the highest maternal Khoesan contribution, while the Coloured showed the largest within population and regional-associated variability. The unique admixture fractions of the two latter populations reflect both early diverged and recently diverged human lineages.
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影响因子：
4.8
作者：
Dolphin, CT;Beckett, DJ;Phillips, IR
通讯作者：
Phillips, IR
影响因子：
64.8
作者：
Li, Heng;Durbin, Richard
通讯作者：
Durbin, Richard
影响因子：
7
作者：
Auton, Adam;Bryc, Katarzyna;Bustamante, Carlos D.
通讯作者：
Bustamante, Carlos D.
DOI：
10.1073/pnas.1017511108
发表时间：
2011-03-29
影响因子：
11.1
作者：
Henn, Brenna M.;Gignoux, Christopher R.;Feldman, Marcus W.
通讯作者：
Feldman, Marcus W.
DOI：
10.1073/pnas.88.3.839
发表时间：
1991-02-01
影响因子：
11.1
作者：
BOWCOCK, AM;KIDD, JR;CAVALLISFORZA, LL
通讯作者：
CAVALLISFORZA, LL