Genetics of skin color has implications for pigmentary biology and human evolution The remarkable genetic diversity within African populations is both a signature and a storybook of human origins because descendants of the earliest humans who lived in Africa nearly 200,000 years ago have had the longest time to accumulate genetic variation. Although studying genetic diversity in African populations tells us a great deal about human history, there is even more to learn by juxtaposing the genetic diversity with the diversity of heritable traits (phenotypes). Yet, there is a paucity of such studies involving continental Africans (1). On page 887 of this issue, Crawford et al. (2) demonstrate the potential insights that can come from ameliorating this disparity. They examined skin color variation in 2000 African individuals from different geographic locations and ethnic groups; the range, from light-skinned San hunter-gatherer populations in southern Africa to dark-skinned pastoralist populations in eastern Africa, far exceeds pigmentary diversity anywhere else on the planet (see the figure). Using a genome-wide association study (GWAS) that includes 1600 individuals living in Tanzania, Botswana, or Ethiopia, the authors identified regions of the genome that contribute to skin color variation and carried out a series of analyses to pinpoint the responsible genes.

中文翻译：

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非洲的肤色变化

肤色遗传学对色素生物学和人类进化有影响 非洲人口中显着的遗传多样性既是人类起源的标志也是一本故事书，因为近 20 万年前生活在非洲的最早人类的后代积累的时间最长遗传变异。虽然研究非洲人群的遗传多样性告诉我们很多关于人类历史的信息，但通过将遗传多样性与遗传性状（表型）的多样性并置，还有更多的东西需要学习。然而，涉及非洲大陆人的此类研究很少（1）。在本期第 887 页上，Crawford 等人。(2) 展示可以从改善这种差异中获得的潜在见解。他们检查了来自不同地理位置和种族的 2000 名非洲人的肤色变化；从南部非洲浅肤色的桑族狩猎采集者群体到东部非洲的深肤色牧民群体，其范围远远超过地球上其他任何地方的色素多样性（见图）。使用包括生活在坦桑尼亚、博茨瓦纳或埃塞俄比亚的 1600 个人的全基因组关联研究 (GWAS)，作者确定了导致肤色变化的基因组区域，并进行了一系列分析以查明相关基因。