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Greater strength of selection and higher proportion of beneficial amino acid changing mutations in humans compared with mice and .与小鼠和 相比,人类受到的选择压力更大,有益氨基酸突变的比例也更高。
Genome Res. 2021 Jan;31(1):110-120. doi: 10.1101/gr.256636.119. Epub 2020 Nov 18.
2
Toward an Evolutionarily Appropriate Null Model: Jointly Inferring Demography and Purifying Selection.走向一个进化上合适的零模型:联合推断人口统计学和净化选择。
Genetics. 2020 May;215(1):173-192. doi: 10.1534/genetics.119.303002. Epub 2020 Mar 9.
3
The impact of genetic adaptation on chimpanzee subspecies differentiation.遗传适应对黑猩猩亚种分化的影响。
PLoS Genet. 2019 Nov 25;15(11):e1008485. doi: 10.1371/journal.pgen.1008485. eCollection 2019 Nov.
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Identifying loci under positive selection in complex population histories.鉴定复杂群体历史中受正选择作用的基因座。
Genome Res. 2019 Sep;29(9):1506-1520. doi: 10.1101/gr.246777.118. Epub 2019 Jul 30.
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Exploiting selection at linked sites to infer the rate and strength of adaptation.利用连锁位点的选择来推断适应的速度和强度。
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On the unfounded enthusiasm for soft selective sweeps II: Examining recent evidence from humans, flies, and viruses.对软选择优势毫无根据的热情 II:审视来自人类、苍蝇和病毒的最新证据。
PLoS Genet. 2018 Dec 28;14(12):e1007859. doi: 10.1371/journal.pgen.1007859. eCollection 2018 Dec.
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Ancient Genomics of Modern Humans: The First Decade.现代人的古代基因组:第一个十年。
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8
The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.印度洋奴隶贸易的遗传遗产:巴基斯坦马克拉尼人的近期混合与混合后选择
Am J Hum Genet. 2017 Dec 7;101(6):977-984. doi: 10.1016/j.ajhg.2017.09.025. Epub 2017 Nov 9.
9
Soft Sweeps Are the Dominant Mode of Adaptation in the Human Genome.软清扫是人类基因组中适应性的主要模式。
Mol Biol Evol. 2017 Aug 1;34(8):1863-1877. doi: 10.1093/molbev/msx154.
10
Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America.非洲和北美洲说班图语人群的扩散和遗传适应。
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人类中由静止变异引起的近期选择性清除的偶发事件,通过近似贝叶斯计算方法揭示。

Sporadic occurrence of recent selective sweeps from standing variation in humans as revealed by an approximate Bayesian computation approach.

机构信息

Human Evolutionary Genetics Unit, Institut Pasteur, UMR 2000, CNRS, Paris 75015, France.

Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.

出版信息

Genetics. 2021 Dec 10;219(4). doi: 10.1093/genetics/iyab161.

DOI:10.1093/genetics/iyab161
PMID:34849862
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8664576/
Abstract

During their dispersals over the last 100,000 years, modern humans have been exposed to a large variety of environments, resulting in genetic adaptation. While genome-wide scans for the footprints of positive Darwinian selection have increased knowledge of genes and functions potentially involved in human local adaptation, they have globally produced evidence of a limited contribution of selective sweeps in humans. Conversely, studies based on machine learning algorithms suggest that recent sweeps from standing variation are widespread in humans, an observation that has been recently questioned. Here, we sought to formally quantify the number of recent selective sweeps in humans, by leveraging approximate Bayesian computation and whole-genome sequence data. Our computer simulations revealed suitable ABC estimations, regardless of the frequency of the selected alleles at the onset of selection and the completion of sweeps. Under a model of recent selection from standing variation, we inferred that an average of 68 (from 56 to 79) and 140 (from 94 to 198) sweeps occurred over the last 100,000 years of human history, in African and Eurasian populations, respectively. The former estimation is compatible with human adaptation rates estimated since divergence with chimps, and reveals numbers of sweeps per generation per site in the range of values estimated in Drosophila. Our results confirm the rarity of selective sweeps in humans and show a low contribution of sweeps from standing variation to recent human adaptation.

摘要

在过去的 10 万年中,现代人类在迁徙过程中暴露于各种环境中,从而产生了遗传适应。虽然全基因组扫描寻找正向达尔文选择的足迹增加了人类局部适应中潜在涉及的基因和功能的知识,但它们在全球范围内仅提供了选择压力在人类中有限贡献的证据。相反,基于机器学习算法的研究表明,人类中近期从固定变异中发生的选择压力广泛存在,这一观察结果最近受到了质疑。在这里,我们通过近似贝叶斯计算和全基因组序列数据,试图正式量化人类中近期选择压力的数量。我们的计算机模拟显示,无论选择开始时选定等位基因的频率以及选择压力的完成情况如何,近似贝叶斯计算都可以进行合适的估计。在近期来自固定变异的选择模型下,我们推断在过去 10 万年的人类历史中,非洲和欧亚人群分别发生了平均 68(56 到 79)和 140(94 到 198)次选择压力。前者的估计与自与黑猩猩分化以来估计的人类适应率相兼容,并揭示了每个世代每个位点的选择压力数量在果蝇中估计的值域内。我们的研究结果证实了人类中选择压力的罕见性,并表明来自固定变异的选择压力对人类近期适应的贡献较低。