A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals
A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals
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DOI：
10.1126/science.1147417
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发表时间：
2007-11-30
期刊：
影响因子：
56.9
通讯作者：
Hofreiter, Michael
中科院分区：
文献类型：
--
作者：
Lalueza-Fox, Carles;Roempler, Holger;Hofreiter, Michael
黑素皮质素1受体（MC1R）调节人类和其他脊椎动物的色素沉着。功能降低的MC1R变异与主要来自欧洲的人类的苍白肤色和红发有关。我们从两具尼安德特人遗骸中扩增并测序了MC1R基因片段（MC1R）。这两个标本都有一种突变，这种突变在3700名被分析的现代人身上没有发现。功能分析表明，这种变异将MC1R活性降低到改变人类头发和/或皮肤色素沉着的水平。这种变异的活性受损表明尼安德特人在色素沉着水平上存在差异，可能在现代人中观察到的规模上。我们的数据表明，不活跃的MC1R变体在现代人和尼安德特人中都是独立进化的。
The melanocortin 1 receptor (MC1R) regulates pigmentation in humans and other vertebrates. Variants of MC1R with reduced function are associated with pale skin color and red hair in humans of primarily European origin. We amplified and sequenced a fragment of the MC1R gene (mc1r) from two Neanderthal remains. Both specimens have a mutation that was not found in similar to 3700 modern humans analyzed. Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans. The impaired activity of this variant suggests that Neanderthals varied in pigmentation levels, potentially on the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.