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非洲人群皮肤色素沉着的进化遗传学。

Evolutionary genetics of skin pigmentation in African populations.

机构信息

Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.

Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.

出版信息

Hum Mol Genet. 2021 Apr 26;30(R1):R88-R97. doi: 10.1093/hmg/ddab007.

Abstract

Skin color is a highly heritable human trait, and global variation in skin pigmentation has been shaped by natural selection, migration and admixture. Ethnically diverse African populations harbor extremely high levels of genetic and phenotypic diversity, and skin pigmentation varies widely across Africa. Recent genome-wide genetic studies of skin pigmentation in African populations have advanced our understanding of pigmentation biology and human evolutionary history. For example, novel roles in skin pigmentation for loci near MFSD12 and DDB1 have recently been identified in African populations. However, due to an underrepresentation of Africans in human genetic studies, there is still much to learn about the evolutionary genetics of skin pigmentation. Here, we summarize recent progress in skin pigmentation genetics in Africans and discuss the importance of including more ethnically diverse African populations in future genetic studies. In addition, we discuss methods for functional validation of adaptive variants related to skin pigmentation.

摘要

肤色是一种高度可遗传的人类特征,全球肤色的变化是自然选择、迁移和混合的结果。不同种族的非洲人群拥有极高水平的遗传和表型多样性,非洲各地的肤色差异很大。最近对非洲人群皮肤色素沉着的全基因组遗传研究增进了我们对色素沉着生物学和人类进化历史的理解。例如,在非洲人群中,MFSD12 和 DDB1 附近的基因座在皮肤色素沉着中的新作用最近被确定。然而,由于非洲人在人类遗传研究中的代表性不足,关于皮肤色素沉着的进化遗传学仍有许多需要了解。在这里,我们总结了非洲人皮肤色素沉着遗传学的最新进展,并讨论了在未来的遗传研究中纳入更多不同种族的非洲人群的重要性。此外,我们还讨论了与皮肤色素沉着相关的适应性变异的功能验证方法。

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