Human skin and hair color are visible traits that can vary dramatically within and across ethnic populations. The genetic makeup of these traits-including polymorphisms in the enzymes and signaling proteins involved in melanogenesis, and the vital role of ion transport mechanisms operating during the maturation and distribution of the melanosome-has provided new insights into the regulation of pigmentation. A large number of novel loci involved in the process have been recently discovered through four large-scale genome-wide association studies in Europeans, two large genetic studies of skin color in Africans, one study in Latin Americans, and functional testing in animal models. The responsible polymorphisms within these pigmentation genes appear at different population frequencies, can be used as ancestry-informative markers, and provide insight into the evolutionary selective forces that have acted to create this human diversity.

中文翻译：

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人类皮肤和头发色素沉着的遗传学。

人类的皮肤和头发的颜色是可见的特征，在不同种族之间和不同种族之间差异很大。这些特性的遗传构成，包括涉及黑色素生成的酶和信号蛋白中的多态性，以及在黑素体成熟和分布过程中起作用的离子转运机制的重要作用，为调节色素沉着提供了新的见识。最近，通过在欧洲进行的四项大规模全基因组关联研究，在非洲人中进行的两项大型皮肤颜色遗传研究，在拉丁美洲人中进行的一项研究以及在动物模型中进行的功能测试，发现了大量参与该过程的新颖基因座。这些色素沉着基因内负责的多态性以不同的种群频率出现，可用作祖先信息标记，