School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia.
Mediclinic Precise Southern Africa, Cape Town, South Africa.
Genome Biol Evol. 2023 Apr 6;15(4). doi: 10.1093/gbe/evad054.
As the ancestral homeland of our species, Africa contains elevated levels of genetic diversity and substantial population structure. Importantly, African genomes are heterogeneous: They contain mixtures of multiple ancestries, each of which have experienced different evolutionary histories. In this review, we view population genetics through the lens of admixture, highlighting how multiple demographic events have shaped African genomes. Each of these historical vignettes paints a recurring picture of population divergence followed by secondary contact. First, we give a brief overview of genetic variation in Africa and examine deep population structure within Africa, including the evidence of ancient introgression from archaic "ghost" populations. Second, we describe the genetic legacies of admixture events that have occurred during the past 10,000 years. This includes gene flow between different click-speaking Khoe-San populations, the stepwise spread of pastoralism from eastern to southern Africa, multiple migrations of Bantu speakers across the continent, as well as admixture from the Middle East and Europe into the Sahel region and North Africa. Furthermore, the genomic signatures of more recent admixture can be found in the Cape Peninsula and throughout the African diaspora. Third, we highlight how natural selection has shaped patterns of genetic variation across the continent, noting that gene flow provides a potent source of adaptive variation and that selective pressures vary across Africa. Finally, we explore the biomedical implications of population structure in Africa on health and disease and call for more ethically conducted studies of genetic variation in Africa.
作为我们人类的发源地,非洲拥有高水平的遗传多样性和显著的人口结构。重要的是,非洲的基因组是异质的:它们包含多种起源的混合物,每种起源都经历了不同的进化历史。在这篇综述中,我们通过混合的视角来看待群体遗传学,强调了多个人口事件是如何塑造非洲基因组的。这些历史片段中的每一个都描绘了一幅人口分化然后再次接触的反复出现的画面。首先,我们简要概述了非洲的遗传变异,并研究了非洲内部的深人群结构,包括来自古老“幽灵”种群的远古基因渗入的证据。其次,我们描述了过去 10000 年来发生的混合事件的遗传遗产。这包括不同的咔哇人群体之间的基因流、畜牧业从东非到南非的逐步传播、班图语使用者在整个非洲大陆的多次迁徙,以及从中东和欧洲到萨赫勒地区和北非的混合。此外,在开普半岛和整个非洲侨民中可以发现最近混合的基因组特征。第三,我们强调了自然选择是如何塑造整个非洲大陆遗传变异模式的,并指出基因流提供了丰富的适应性变异来源,而选择压力在非洲各地有所不同。最后,我们探讨了非洲人口结构对健康和疾病的医学影响,并呼吁在非洲进行更多符合伦理的遗传变异研究。