Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
Genomics and Computational Biology Graduate Program, University of Pennsylvania, Philadelphia, PA 19104.
Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4166-4175. doi: 10.1073/pnas.1817678116. Epub 2019 Feb 19.
Anatomically modern humans arose in Africa ∼300,000 years ago, but the demographic and adaptive histories of African populations are not well-characterized. Here, we have generated a genome-wide dataset from 840 Africans, residing in western, eastern, southern, and northern Africa, belonging to 50 ethnicities, and speaking languages belonging to four language families. In addition to agriculturalists and pastoralists, our study includes 16 populations that practice, or until recently have practiced, a hunting-gathering (HG) lifestyle. We observe that genetic structure in Africa is broadly correlated not only with geography, but to a lesser extent, with linguistic affiliation and subsistence strategy. Four East African HG (EHG) populations that are geographically distant from each other show evidence of common ancestry: the Hadza and Sandawe in Tanzania, who speak languages with clicks classified as Khoisan; the Dahalo in Kenya, whose language has remnant clicks; and the Sabue in Ethiopia, who speak an unclassified language. Additionally, we observed common ancestry between central African rainforest HGs and southern African San, the latter of whom speak languages with clicks classified as Khoisan. With the exception of the EHG, central African rainforest HGs, and San, other HG groups in Africa appear genetically similar to neighboring agriculturalist or pastoralist populations. We additionally demonstrate that infectious disease, immune response, and diet have played important roles in the adaptive landscape of African history. However, while the broad biological processes involved in recent human adaptation in Africa are often consistent across populations, the specific loci affected by selective pressures more often vary across populations.
现代人种大约在 30 万年前起源于非洲,但非洲人群的人口和适应史还没有得到很好的描述。在这里,我们从居住在非洲西部、东部、南部和北部的 840 名非洲人身上生成了一个全基因组数据集,他们属于 50 个民族,使用属于四个语系的语言。除了农民和牧民,我们的研究还包括 16 个至今仍从事或曾经从事狩猎采集(HG)生活方式的群体。我们观察到,非洲的遗传结构不仅与地理密切相关,而且在一定程度上与语言联系和生存策略有关。四个东非 HG(EHG)群体彼此相距甚远,但都有共同的祖先:坦桑尼亚的哈扎人和桑达韦,他们说的语言带有喀麦隆语分类的咔哒声;肯尼亚的达哈洛,他们的语言中仍然有咔哒声;埃塞俄比亚的萨布,他们说的是一种未分类的语言。此外,我们还观察到中非雨林 HG 和南非桑人的共同祖先,后者说的语言带有喀麦隆语分类的咔哒声。除了 EHG、中非雨林 HG 和 San 之外,非洲其他 HG 群体在基因上与邻近的农民或牧民群体相似。我们还证明,传染病、免疫反应和饮食在非洲历史的适应景观中发挥了重要作用。然而,虽然最近非洲人类适应所涉及的广泛生物过程在不同人群中通常是一致的,但受选择压力影响的特定基因座在不同人群中往往是不同的。