PNAS2014-03-21 1:23 PM

5000年前欧洲人皮肤,头发和眼睛色素显性选择的直接证据 Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y 

意义 
眼睛,毛发和皮肤色素在人种中是高度变化的, 特别是在西欧亚人种群体中。这种多样性可以解释为受到了人口历史,选择压力的缓和或显性选择等的影响。 为了调查显性自然选择是否会造成欧洲人种的色素脱失, 我们估计了选择作用对三种已知会对人体色素沉着产生显著作用的基因所产生的影响。 我们利用源自史前欧洲人的古代DNA和计算机模拟的直接方法作出了这些估计。这使我们能够将选择系数确定在较精确的远古年代范围内。我们的研究结果表明这种强劲选择在过去5千年中一直活跃在西欧亚大陆人种的色素相关基因中。 
Significance
Eye, hair, and skin pigmentation are highly variable in humans, particularly in western Eurasian populations. This diversity may be explained by population history, the relaxation of selection pressures, or positive selection. To investigate whether positive natural selection is responsible for depigmentation within Europe, we estimated the strength of selection acting on three genes known to have significant effects on human pigmentation. In a direct approach, these estimates were made using ancient DNA from prehistoric Europeans and computer simulations. This allowed us to determine selection coefficients for a precisely bounded period in the deep past. Our results indicate that strong selection has been operating on pigmentation-related genes within western Eurasia for the past 5,000 y.

论文摘要 
色素沉着是一种在人类中所观察到的涵盖了某些最显著表型变异的多基因遗传特征。已知HERC2,SLC45A2和TYR这3个关键基因参与了人类色素沉着途径,我们在此利用对源自新石器时代,青铜时代和现代东欧样本等位基因的频率估算以及正演模拟来直接估计位于这3个关键基因中的功能性等位基因的选择作用。对所有已研究的等位基因来说,每代对选择的点估计浮动在约2-10%的范围内,中立性遭到了压倒性的多数否决。我们的研究结果提供了直接证据表明,过去5000年中强劲选择对较浅皮肤,头发和眼睛色素的倾向一直表现在欧洲人种群体中。 
Abstract
Pigmentation is a polygenic trait encompassing some of the most visible phenotypic variation observed in humans. Here we present direct estimates of selection acting on functional alleles in three key genes known to be involved in human pigmentation pathways—HERC2, SLC45A2, and TYR—using allele frequency estimates from Eneolithic, Bronze Age, and modern Eastern European samples and forward simulations. Neutrality was overwhelmingly rejected for all alleles studied, with point estimates of selection ranging from around 2–10% per generation. Our results provide direct evidence that strong selection favoring lighter skin, hair, and eye pigmentation has been operating in European populations over the last 5,000 y.

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