基因组分析为欧亚大陆人类迁徙过程中的迁徙事件提供了信息。
Genomic analyses inform on migration events during the peopling of Eurasia.
作者信息
Pagani Luca, Lawson Daniel John, Jagoda Evelyn, Mörseburg Alexander, Eriksson Anders, Mitt Mario, Clemente Florian, Hudjashov Georgi, DeGiorgio Michael, Saag Lauri, Wall Jeffrey D, Cardona Alexia, Mägi Reedik, Wilson Sayres Melissa A, Kaewert Sarah, Inchley Charlotte, Scheib Christiana L, Järve Mari, Karmin Monika, Jacobs Guy S, Antao Tiago, Iliescu Florin Mircea, Kushniarevich Alena, Ayub Qasim, Tyler-Smith Chris, Xue Yali, Yunusbayev Bayazit, Tambets Kristiina, Mallick Chandana Basu, Saag Lehti, Pocheshkhova Elvira, Andriadze George, Muller Craig, Westaway Michael C, Lambert David M, Zoraqi Grigor, Turdikulova Shahlo, Dalimova Dilbar, Sabitov Zhaxylyk, Sultana Gazi Nurun Nahar, Lachance Joseph, Tishkoff Sarah, Momynaliev Kuvat, Isakova Jainagul, Damba Larisa D, Gubina Marina, Nymadawa Pagbajabyn, Evseeva Irina, Atramentova Lubov, Utevska Olga, Ricaut François-Xavier, Brucato Nicolas, Sudoyo Herawati, Letellier Thierry, Cox Murray P, Barashkov Nikolay A, Skaro Vedrana, Mulahasanovic Lejla, Primorac Dragan, Sahakyan Hovhannes, Mormina Maru, Eichstaedt Christina A, Lichman Daria V, Abdullah Syafiq, Chaubey Gyaneshwer, Wee Joseph T S, Mihailov Evelin, Karunas Alexandra, Litvinov Sergei, Khusainova Rita, Ekomasova Natalya, Akhmetova Vita, Khidiyatova Irina, Marjanović Damir, Yepiskoposyan Levon, Behar Doron M, Balanovska Elena, Metspalu Andres, Derenko Miroslava, Malyarchuk Boris, Voevoda Mikhail, Fedorova Sardana A, Osipova Ludmila P, Lahr Marta Mirazón, Gerbault Pascale, Leavesley Matthew, Migliano Andrea Bamberg, Petraglia Michael, Balanovsky Oleg, Khusnutdinova Elza K, Metspalu Ene, Thomas Mark G, Manica Andrea, Nielsen Rasmus, Villems Richard, Willerslev Eske, Kivisild Toomas, Metspalu Mait
机构信息
Estonian Biocentre, Tartu, Estonia.
Department of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
出版信息
Nature. 2016 Oct 13;538(7624):238-242. doi: 10.1038/nature19792. Epub 2016 Sep 21.
High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.
迄今为止,高覆盖率全基因组序列研究主要集中在数量有限的、地理范围受限的人群,或者针对特定疾病,如癌症。然而,高分辨率基因组数据的可得性催生了推断群体历史的新方法,并为关于人类突变率的争论注入了新动力。在此,我们展示了爱沙尼亚生物中心人类基因组多样性面板(EGDP),这是一个包含来自全球148个群体的483个高覆盖率人类基因组的数据集,其中包括来自125个群体的379个新基因组,我们将其分为多样性集合和选择集合。我们分析这个数据集,以完善对全大陆杂合度模式、长距离和短距离基因流动、古老基因混合以及有效群体大小随时间变化的估计,同时寻找正选择或平衡选择的信号。我们在当今巴布亚人中发现了一种遗传特征,表明他们至少2%的基因组源自解剖学上现代人类(AMH)早期一次大规模灭绝的走出非洲的扩张。结合来自西亚化石记录的证据,以及在主要欧亚扩张之前AMH与尼安德特人的基因混合,我们的结果为75000年前之前非洲以外存在AMH这一越来越多的证据做出了贡献。