Genomic insights into population history and biological adaptation in Oceania
Genomic insights into population history and biological adaptation in Oceania
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DOI：
10.1038/s41586-021-03236-5
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发表时间：
2021-04-14
期刊：
影响因子：
64.8
通讯作者：
Quintana-Murci, Lluis
中科院分区：
文献类型：
--
作者：
Choin, Jeremy;Mendoza-Revilla, Javier;Quintana-Murci, Lluis
太平洋地区对于解决人类扩散、与古人类的相互作用以及自然选择过程等问题具有重要意义(1)。然而，大洋洲人口的人口和适应历史在很大程度上仍然没有特征。在这里，我们报告了来自太平洋地区 20 个种群的 317 个人的高覆盖率基因组。我们发现，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严重的瓶颈，并在大约 20,000-40,000 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的扩张之前就与台湾原住民分化了，新石器时代的扩张被认为是从大约5000年前的台湾开始的(2-4)。此外，这种分散之后并没有与近大洋洲种群立即发生单一混合事件，而是涉及遗传相互作用的反复发作。我们的分析揭示了太平洋群体中丹尼索瓦人遗产的比例和性质存在显着差异，这表明与高度结构化的古代群体发生了独立的杂交。此外，尼安德特人遗传信息的渗入促进了现代人类对多种表型（例如新陈代谢、色素沉着和神经元发育）的适应，而丹尼索瓦人的基因渗入主要有利于免疫相关功能。最后，我们报告了太平洋地区与病原体暴露和脂质代谢相关的选择性清除和多基因适应的证据，增加了我们对生物适应岛屿环境机制的理解。
The Pacific region is of major importance for addressing questions regarding human dispersals, interactions with archaic hominins and natural selection processes(1). 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(2-4). 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.