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大洋洲的人口历史和生物适应性的基因组研究进展

Genomic insights into population history and biological adaptation in Oceania.

机构信息

Human Evolutionary Genetics Unit, Institut Pasteur, UMR 2000, CNRS, Paris, France.

Université Paris Diderot, Sorbonne Paris Cité, Paris, France.

出版信息

Nature. 2021 Apr;592(7855):583-589. doi: 10.1038/s41586-021-03236-5. Epub 2021 Apr 14.

Abstract

The Pacific region is of major importance for addressing questions regarding human dispersals, interactions with archaic hominins and natural selection processes. However, the demographic and adaptive history of Oceanian populations remains largely uncharacterized. Here we report high-coverage genomes of 317 individuals from 20 populations from the Pacific region. We find that the ancestors of Papuan-related ('Near Oceanian') groups underwent a strong bottleneck before the settlement of the region, and separated around 20,000-40,000 years ago. We infer that the East Asian ancestors of Pacific populations may have diverged from Taiwanese Indigenous peoples before the Neolithic expansion, which is thought to have started from Taiwan around 5,000 years ago. Additionally, this dispersal was not followed by an immediate, single admixture event with Near Oceanian populations, but involved recurrent episodes of genetic interactions. Our analyses reveal marked differences in the proportion and nature of Denisovan heritage among Pacific groups, suggesting that independent interbreeding with highly structured archaic populations occurred. Furthermore, whereas introgression of Neanderthal genetic information facilitated the adaptation of modern humans related to multiple phenotypes (for example, metabolism, pigmentation and neuronal development), Denisovan introgression was primarily beneficial for immune-related functions. Finally, we report evidence of selective sweeps and polygenic adaptation associated with pathogen exposure and lipid metabolism in the Pacific region, increasing our understanding of the mechanisms of biological adaptation to island environments.

摘要

太平洋地区对于解决有关人类迁徙、与古人类的相互作用以及自然选择过程的问题具有重要意义。然而,大洋洲人口的人口和适应性历史在很大程度上仍未被描述。在这里,我们报告了来自太平洋地区 20 个群体的 317 个人的高覆盖率基因组。我们发现,与巴布亚相关(“近大洋洲”)群体的祖先在该地区定居之前经历了强烈的瓶颈,大约在 2 万至 4 万年前分离。我们推断,太平洋人口的东亚祖先可能在新石器时代扩张之前就已经从台湾原住民中分化出来了,而新石器时代扩张被认为是从大约 5000 年前的台湾开始的。此外,这种扩散并没有立即与近大洋洲人群发生单一的混合事件,而是涉及到遗传相互作用的反复出现。我们的分析揭示了太平洋群体中丹尼索瓦人遗传遗产的比例和性质存在显著差异,这表明与高度结构化的古人群进行了独立的杂交。此外,虽然尼安德特人遗传信息的基因渗入促进了与多种表型(例如代谢、色素沉着和神经元发育)相关的现代人类的适应,但丹尼索瓦人的基因渗入主要有利于与免疫相关的功能。最后,我们报告了与太平洋地区病原体暴露和脂质代谢相关的选择清扫和多基因适应的证据,这增加了我们对岛屿环境生物适应机制的理解。

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