Makova Kateryna, Norton Heather
Department of Biology, The Pennsylvania State University, 518 Mueller Lab, University Park, PA 16802, USA.
Peptides. 2005 Oct;26(10):1901-8. doi: 10.1016/j.peptides.2004.12.032.
While there have been many advances in our understanding of the genetics of pathological skin pigmentation in humans, our knowledge about what determines variation in normal skin color is still incomplete. Variation in one gene, melanocortin 1 receptor (MC1R), has been associated with red hair and fair skin in Europeans. However, this gene might also play an important role in shaping pigmentation of other human populations, where it experiences different selective pressures. Below we review what is currently known about polymorphism and selection at the MC1R coding and promoter regions in human populations, the pattern of MC1R evolution in nonhuman primates, and the interaction of MC1R with other genes.
虽然我们对人类病理性皮肤色素沉着的遗传学已有诸多进展，但我们对决定正常肤色差异因素的了解仍不完整。欧洲人中，一个名为黑皮质素1受体（MC1R）的基因变异与红头发和白皙皮肤有关。然而，该基因在其他人类群体的色素沉着形成中可能也起着重要作用，在这些群体中它受到不同的选择压力。以下我们将综述目前已知的人类群体中MC1R编码区和启动子区的多态性与选择情况、非人类灵长类动物中MC1R的进化模式以及MC1R与其他基因的相互作用。
