A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.
A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.
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近代人类进化过程中趋同皮肤美白的遗传机制
DOI：
10.1093/molbev/msw003
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发表时间：
2016-05
影响因子：
10.7
通讯作者：
Su B
中科院分区：
文献类型：
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作者：
Yang Z;Zhong H;Chen J;Zhang X;Zhang H;Luo X;Xu S;Chen H;Lu D;Han Y;Li J;Fu L;Qi X;Peng Y;Xiang K;Lin Q;Guo Y;Li M;Cao X;Zhang Y;Liao S;Peng Y;Zhang L;Guo X;Dong S;Liang F;Wang J;Willden A;Seang Aun H;Serey B;Sovannary T;Bunnath L;Samnom H;Mardon G;Li Q;Meng A;Shi H;Su B
欧亚人的皮肤变白被认为是欧洲和东亚独立发生的一种趋同现象，作为对高纬度环境的适应。在欧洲人中，已经发现了几个负责这种发光的基因，但东亚人的信息要有限得多。在这里，对深肤色的非洲人和说南亚语的土著人以及浅肤色的北方汉族人进行了全基因组比较，确定了色素沉着基因OCA 2，显示出这些群体之间异常深的等位基因差异。在大多数东亚人群中普遍存在的OCA 2的氨基酸替换（His 615 Arg）--但在非洲人和欧洲人中不存在--与北方汉族人的皮肤美白显著相关。斑马鱼和小鼠的进一步转基因和靶向基因修饰分析均显示出OCA 2变体的表型效应，表现出黑色素产生减少。这些结果表明，OCA 2在东亚人在最近的人类进化过程中的收敛性皮肤变白中起着重要作用。
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.