Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease
Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease
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DOI：
10.1101/cshperspect.a008524
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发表时间：
2014-07-01
影响因子：
7.2
通讯作者：
Tishkoff, Sarah A.
中科院分区：
文献类型：
--
作者：
Gomez, Felicia;Hirbo, Jibril;Tishkoff, Sarah A.
由于现代人类起源于非洲并适应了多样化的环境，非洲人群具有高度的遗传和表型多样性。因此，对不同非洲种族群体的基因组研究对于了解人类进化史以及这如何导致所有人类的不同疾病风险至关重要。非洲族群内部和之间的遗传多样性的比较研究创造了一个机会，以重建人类历史上最早的一些事件，并有助于确定遗传变异的模式，最近的自然选择的影响。在这里，我们描述了目前已知的遗传变异和不同的非洲种族群体的进化历史。我们还描述了非洲基因组中最近自然选择的例子，以及这些数据如何为了解许多遗传特征的频率提供信息，包括那些导致非洲人群和最近非洲血统人群疾病易感性的遗传特征。
Because modern humans originated in Africa and have adapted to diverse environments, African populations have high levels of genetic and phenotypic diversity. Thus, genomic studies of diverse African ethnic groups are essential for understanding human evolutionary history and how this leads to differential disease risk in all humans. Comparative studies of genetic diversity within and between African ethnic groups creates an opportunity to reconstruct some of the earliest events in human population history and are useful for identifying patterns of genetic variation that have been influenced by recent natural selection. Here we describe what is currently known about genetic variation and evolutionary history of diverse African ethnic groups. We also describe examples of recent natural selection in African genomes and how these data are informative for understanding the frequency of many genetic traits, including those that cause disease susceptibility in African populations and populations of recent African descent.