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.

中文翻译：

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非洲人群皮肤色素沉着的进化遗传学

肤色是一种高度可遗传的人类特征，皮肤色素沉着的全球变化是由自然选择、迁移和混合形成的。种族多样化的非洲人口具有极高水平的遗传和表型多样性，非洲各地的皮肤色素沉着差异很大。最近对非洲人群皮肤色素沉着的全基因组遗传学研究加深了我们对色素沉着生物学和人类进化史的理解。例如，最近在非洲人群中发现了 MFSD12 和 DDB1 附近基因座在皮肤色素沉着中的新作用。然而，由于非洲人在人类基因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很多需要了解。这里，我们总结了非洲人皮肤色素沉着遗传学的最新进展，并讨论了在未来的基因研究中纳入更多种族多样化的非洲人群的重要性。此外，我们讨论了与皮肤色素沉着相关的适应性变体的功能验证方法。