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从进化遗传学到人免疫学到:选择如何塑造宿主防御基因。

From evolutionary genetics to human immunology: how selection shapes host defence genes.

机构信息

Human Evolutionary Genetics, Institut Pasteur, Centre National de la Recherche Scientifique URA3012, Paris 75015, France.

出版信息

Nat Rev Genet. 2010 Jan;11(1):17-30. doi: 10.1038/nrg2698. Epub 2009 Dec 1.

DOI:10.1038/nrg2698
PMID:19953080
Abstract

Pathogens have always been a major cause of human mortality, so they impose strong selective pressure on the human genome. Data from population genetic studies, including genome-wide scans for selection, are providing important insights into how natural selection has shaped immunity and host defence genes in specific human populations and in the human species as a whole. These findings are helping to delineate genes that are important for host defence and to increase our understanding of how past selection has had an impact on disease susceptibility in modern populations. A tighter integration between population genetic studies and immunological phenotype studies is now necessary to reveal the mechanisms that have been crucial for our past and present survival against infection.

摘要

病原体一直是导致人类死亡的主要原因,因此它们对人类基因组施加了强大的选择压力。来自群体遗传学研究的数据,包括对选择的全基因组扫描,正在为我们提供重要的见解,了解自然选择如何塑造了特定人类群体和整个人类的免疫和宿主防御基因。这些发现有助于描绘对宿主防御很重要的基因,并增加我们对过去的选择如何影响现代人群疾病易感性的理解。现在有必要在群体遗传学研究和免疫表型研究之间进行更紧密的整合,以揭示过去和现在对抗感染的生存中至关重要的机制。

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Common regulatory variation impacts gene expression in a cell type-dependent manner.
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Am J Hum Genet. 2025 Mar 6;112(3):709-723. doi: 10.1016/j.ajhg.2025.01.020. Epub 2025 Feb 18.
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Natural selection and adaptive traits in the Maniq, a nomadic hunter-gatherer society from Mainland Southeast Asia.来自东南亚大陆的游牧狩猎采集社会马尼格人的自然选择与适应性特征。
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