Deng Lian, Xu Shuhua
Chinese Academy of Sciences (CAS) Key Laboratory of Computational Biology, Max Planck Independent Research Group on Population Genomics, CAS-MPG Partner Institute for Computational Biology (PICB), Shanghai Institutes for Biological Sciences, CAS, Shanghai, 200031 China.
University of Chinese Academy of Sciences, Beijing, 100049 China.
Hereditas. 2017 Jun 15;155:1. doi: 10.1186/s41065-017-0036-2. eCollection 2018.
Skin color is a well-recognized adaptive trait and has been studied extensively in humans. Understanding the genetic basis of adaptation of skin color in various populations has many implications in human evolution and medicine.
Impressive progress has been made recently to identify genes associated with skin color variation in a wide range of geographical and temporal populations. In this review, we discuss what is currently known about the genetics of skin color variation. We enumerated several cases of skin color adaptation in global modern humans and archaic hominins, and illustrated why, when, and how skin color adaptation occurred in different populations. Finally, we provided a summary of the candidate loci associated with pigmentation, which could be a valuable reference for further evolutionary and medical studies.
Previous studies generally indicated a complex genetic mechanism underlying the skin color variation, expanding our understanding of the role of population demographic history and natural selection in shaping genetic and phenotypic diversity in humans. Future work is needed to dissect the genetic architecture of skin color adaptation in numerous ethnic minority groups around the world, which remains relatively obscure compared with that of major continental groups, and to unravel the exact genetic basis of skin color adaptation.
肤色是一种广为人知的适应性特征,在人类中已得到广泛研究。了解不同人群肤色适应的遗传基础在人类进化和医学方面具有诸多意义。
最近在识别广泛地理和时间范围内与肤色变异相关的基因方面取得了令人瞩目的进展。在本综述中,我们讨论了目前关于肤色变异遗传学的已知情况。我们列举了全球现代人类和古代人类中几个肤色适应的案例,并阐述了不同人群中肤色适应为何、何时以及如何发生。最后,我们总结了与色素沉着相关的候选基因座,这可为进一步的进化和医学研究提供有价值的参考。
先前的研究普遍表明肤色变异背后存在复杂的遗传机制,这拓展了我们对群体人口历史和自然选择在塑造人类遗传和表型多样性中作用的理解。未来需要开展工作来剖析世界上众多少数民族群体中肤色适应的遗传结构,与主要大陆群体相比,其遗传结构仍相对模糊,同时要揭示肤色适应的确切遗传基础。