英国威康桑格研究所Chris Tyler-Smith研究组通过929个不同的基因组揭示了人类遗传变异和种群历史。2020年3月20日出版的《科学》发表了这项成果。

研究人员揭示了来自54个不同人群的929个高覆盖度基因组序列，其中26个使用链接阅读测序进行了物理分级。对这些基因组的分析表明，南部非洲、中部非洲、大洋洲和美洲拥有特定且未记录的常见遗传变异，但在主要地理区域之间没有此类变异。

研究还发现非洲内部人口逐步分化，过去一万年来狩猎与农耕群体之间的人口规模与历史形成了鲜明对比，与多尼索万的多个原始人口之间的对比表明尼安德特人对当今的人口产生了影响。

研究人员表示，需要来自不同人类群体的基因组序列，以了解物种遗传变异的结构和不同种群的历史及其之间的关系。

附：英文原文

Title: Insights into human genetic variation and population history from 929 diverse genomes

Author: Anders Bergstrm, Shane A. McCarthy, Ruoyun Hui, Mohamed A. Almarri, Qasim Ayub, Petr Danecek, Yuan Chen, Sabine Felkel, Pille Hallast, Jack Kamm, Hélène Blanché, Jean-Franois Deleuze, Howard Cann, Swapan Mallick, David Reich, Manjinder S. Sandhu, Pontus Skoglund, Aylwyn Scally, Yali Xue, Richard Durbin, Chris Tyler-Smith

Issue&Volume: 2020/03/20

Abstract: Abstract

Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and the history of, and relationships between, different populations. We present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing. Analyses of these genomes reveal an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions. We also find deep and gradual population separations within Africa, contrasting population size histories between hunter-gatherer and agriculturalist groups in the past 10,000 years, and a contrast between single Neanderthal but multiple Denisovan source populations contributing to present-day human populations.

DOI: 10.1126/science.aay5012

Source: https://science.sciencemag.org/content/367/6484/eaay5012