Genomic variation in seven Khoe-San groups reveals adaptation and complex African history.

Genomic variation in seven Khoe-San groups reveals adaptation and complex African history.
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DOI:
10.1126/science.1227721
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发表时间:
2012-10-19
期刊:
Science (New York, N.Y.)
影响因子:
--
通讯作者:
Jakobsson M
Jakobsson M
中科院分区:
其他
文献类型:
--
作者:
Schlebusch CM;Skoglund P;Sjödin P;Gattepaille LM;Hernandez D;Jay F;Li S;De Jongh M;Singleton A;Blum MG;Soodyall H;Jakobsson M

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点击语Khoe-San的历史,以及整个非洲人口的历史,仍然鲜为人知。我们对220名南部非洲人的约230万个单核苷酸多态进行了基因分型,发现科桑人在100,000年前就与其他群体≥背道而驰,但科桑人的群体结构可以追溯到大约35,000年前。撒哈拉以南不同人口的遗传变异并没有将现代人的起源局限于非洲的一个单一地理区域;相反,它表明了一段混杂和分层的历史。我们发现了以肌肉功能和免疫反应为目标的适应的证据;潜在的适应导入对紫外线的保护;以及早于现代人类多样化的选择,涉及骨骼和神经发育。这些新发现说明了非洲基因组多样性在理解人类进化史方面的重要性。
The history of click-speaking Khoe-San, and African populations in general, remains poorly understood. We genotyped ~2.3 million single-nucleotide polymorphisms in 220 southern Africans and found that the Khoe-San diverged from other populations ≥100,000 years ago, but population structure within the Khoe-San dated back to about 35,000 years ago. Genetic variation in various sub-Saharan populations did not localize the origin of modern humans to a single geographic region within Africa; instead, it indicated a history of admixture and stratification. We found evidence of adaptation targeting muscle function and immune response; potential adaptive introgression of protection from ultraviolet light; and selection predating modern human diversification, involving skeletal and neurological development. These new findings illustrate the importance of African genomic diversity in understanding human evolutionary history.
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