State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
CAS-MPG Partner Institute for Computational Biology, Shanghai Institute for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS), Shanghai, China.
Mol Biol Evol. 2014 Aug;31(8):1994-2003. doi: 10.1093/molbev/msu180. Epub 2014 Jun 10.
Skin color is one of the most visible and important phenotypes of modern humans. Melanocyte-stimulating hormone and its receptor played an important role in regulating skin color. In this article, we present evidence of Neanderthal introgression encompassing the melanocyte-stimulating hormone receptor gene MC1R. The haplotypes from Neanderthal introgression diverged with the Altai Neanderthal 103.3 ka, which postdates the anatomically modern human-Neanderthal divergence. We further discovered that all of the putative Neanderthal introgressive haplotypes carry the Val92Met variant, a loss-of-function variant in MC1R that is associated with multiple dermatological traits including skin color and photoaging. Frequency of this Neanderthal introgression is low in Europeans (∼5%), moderate in continental East Asians (∼30%), and high in Taiwanese aborigines (60-70%). As the putative Neanderthal introgressive haplotypes carry a loss-of-function variant that could alter the function of MC1R and is associated with multiple traits related to skin color, we speculate that the Neanderthal introgression may have played an important role in the local adaptation of Eurasians to sunlight intensity.
肤色是现代人最明显和最重要的表型之一。促黑素细胞激素及其受体在调节肤色方面发挥着重要作用。在本文中，我们提出了尼安德特人基因渗入涵盖促黑素细胞激素受体基因 MC1R 的证据。来自尼安德特人基因渗入的单倍型与阿尔泰山 103.3 千年前的尼安德特人 1 分化，这晚于解剖学上的现代人类-尼安德特人分化。我们进一步发现，所有假定的尼安德特人基因渗入单倍型都携带 Val92Met 变体，这是 MC1R 的一种失功能变体，与包括肤色和光老化在内的多种皮肤特征有关。这种尼安德特人基因渗入在欧洲人中的频率较低（约 5%），在大陆东亚人中的频率中等（约 30%），在台湾原住民中的频率较高（60-70%）。由于假定的尼安德特人基因渗入携带一种失功能变体，可能改变 MC1R 的功能，并与肤色相关的多种特征有关，我们推测尼安德特人基因渗入可能在欧亚人对阳光强度的局部适应中发挥了重要作用。
