美国宾夕法尼亚大学Sarah A. Tishkoff小组发现，全基因组测序揭示复杂的非洲人口历史和当地适应的特征。2023年3月2日出版的《细胞》杂志发表了这项成果。
研究人员对来自12个非洲土著人群的180人进行了高覆盖率（>30倍）的全基因组测序。研究人员发现了数百万个未报告的变体，其中许多被预测为具有重要功能。研究人员观察到南部非洲San族和中部非洲雨林狩猎采集者（RHG）的祖先与其他种群分化>200kya，并保持了较大的有效人口规模。研究人员观察到非洲古代人口结构的证据，以及来自具有高度分化的遗传系的“幽灵”群的多种引入事件。虽然目前在地理上是隔离的，但研究人员观察到东部和南部讲科伊桑语的狩猎采集者种群之间的基因流动一直持续到12kya。
研究人员确定了与肤色、免疫反应、身高和代谢过程有关的特征的当地适应性特征。研究人员在轻度色素沉着的San族中发现了一个正选变体，它通过调节PDPK1的增强子活性和基因表达来影响体外色素沉着。
附：英文原文
Title: Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation
Author: Shaohua Fan, Jeffrey P. Spence, Yuanqing Feng, Matthew E.B. Hansen, Jonathan Terhorst, Marcia H. Beltrame, Alessia Ranciaro, Jibril Hirbo, William Beggs, Neil Thomas, Thomas Nyambo, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Alfred Njamnshi, Charles Folkunang, Dawit Wolde Meskel, Gurja Belay, Yun S. Song, Sarah A. Tishkoff
Issue&Volume: 2023/03/02
Abstract: We conduct high coverage (>30×) whole-genome sequencing of 180 individuals from 12 indigenous African populations. We identify millions of unreported variants, many predicted to be functionally important. We observe that the ancestors of southern African San and central African rainforest hunter-gatherers (RHG) diverged from other populations >200 kya and maintained a large effective population size. We observe evidence for ancient population structure in Africa and for multiple introgression events from “ghost” populations with highly diverged genetic lineages. Although currently geographically isolated, we observe evidence for gene flow between eastern and southern Khoesan-speaking hunter-gatherer populations lasting until ～12 kya. We identify signatures of local adaptation for traits related to skin color, immune response, height, and metabolic processes. We identify a positively selected variant in the lightly pigmented San that influences pigmentation in vitro by regulating the enhancer activity and gene expression of PDPK1.
DOI: 10.1016/j.cell.2023.01.042
Source: https://www.cell.com/cell/fulltext/S0092-8674(23)00101-0