Institute of Anthropology, Johannes Gutenberg University Mainz, 55128 Mainz, Germany.
Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):4832-7. doi: 10.1073/pnas.1316513111. Epub 2014 Mar 10.
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.
色素沉着是一种多基因特征，包含了人类中最明显的表型变异。在这里，我们使用新石器时代、青铜时代和现代东欧样本中的等位基因频率估计值以及正向模拟，直接估计了三个已知参与人类色素沉着途径的关键基因（HERC2、SLC45A2 和 TYR）中的功能等位基因所受到的选择。所有研究的等位基因都强烈拒绝了中性，选择的点估计值从每代约 2-10%不等。我们的研究结果直接表明，在过去的 5000 年里，有利于浅色皮肤、头发和眼睛色素沉着的强烈选择一直在欧洲人群中起作用。
