A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution

作者：Zhaohui Yang, Hua Zhong, Jing Chen, Xiaoming Zhang, Hui Zhang, Xin Luo, Shuhua Xu, Hua Chen, Dongsheng Lu, Yinglun Han, Jinkun Li, Lijie Fu, Xuebin Qi, Yi Peng, Kun Xiang, Qiang Lin, Yan Guo, Ming Li, Xiangyu Cao, Yanfeng Zhang, Shiyu Liao, Yingmei Peng, Lin Zhang, Xiaosen Guo, Shanshan Dong, Fan Liang, Jun Wang, Andrew Willden, Hong Seang Aun, Bun Serey, Tuot Sovannary, Long Bunnath, Ham Samnom, Graeme Mardon, Qingwei Li, Anming Meng, Hong Shi, Bing Su · 发表于：Molecular Biology and Evolution · 年份：2016 · DOI：10.1093/molbev/msw003 · 被引用次数：60 · 研究领域：melanin and skin pigmentation、Skin Protection and Aging、Olfactory and Sensory Function Studies

Skin lightening among Eurasians is thought to have been a convergence occurring independently in Europe and East Asia as an adaptation to high latitude environments. Among Europeans, several genes responsible for such lightening have been found, but the information available for East Asians is much more limited. Here, a genome-wide comparison between dark-skinned Africans and Austro-Asiatic speaking aborigines and light-skinned northern Han Chinese identified the pigmentation gene OCA2, showing unusually deep allelic divergence between these groups. An amino acid substitution (His615Arg) of OCA2 prevalent in most East Asian populations-but absent in Africans and Europeans-was significantly associated with skin lightening among northern Han Chinese. Further transgenic and targeted gene modification analyses of zebrafish and mouse both exhibited the phenotypic effect of the OCA2 variant manifesting decreased melanin production. These results indicate that OCA2 plays an important role in the convergent skin lightening of East Asians during recent human evolution.