The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.,American Journal of Human Genetics

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The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.
American Journal of Human Genetics ( IF 8.1 ) Pub Date : 2017-10-05 00:00:00 , DOI: 10.1016/j.ajhg.2017.09.010
Michael Dannemann ₁ , Janet Kelso ₁

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Assessing the genetic contribution of Neanderthals to non-disease phenotypes in modern humans has been difficult because of the absence of large cohorts for which common phenotype information is available. Using baseline phenotypes collected for 112,000 individuals by the UK Biobank, we can now elaborate on previous findings that identified associations between signatures of positive selection on Neanderthal DNA and various modern human traits but not any specific phenotypic consequences. Here, we show that Neanderthal DNA affects skin tone and hair color, height, sleeping patterns, mood, and smoking status in present-day Europeans. Interestingly, multiple Neanderthal alleles at different loci contribute to skin and hair color in present-day Europeans, and these Neanderthal alleles contribute to both lighter and darker skin tones and hair color, suggesting that Neanderthals themselves were most likely variable in these traits.

中文翻译：

尼安德特人对现代人类表型变异的贡献。

评估尼安德特人对现代人类非疾病表型的遗传贡献是困难的，因为缺乏可利用其常见表型信息的大型队列。现在，使用UK Biobank为112,000名个体收集的基线表型，我们现在可以详细阐述以前的发现，该发现确定了尼安德特人DNA上阳性选择的特征与各种现代人类特征之间的关联，但没有任何特定的表型后果。在这里，我们证明了尼安德特人的DNA影响当今欧洲人的肤色和头发颜色，身高，睡眠方式，情绪和吸烟状况。有趣的是，在当今的欧洲人中，位于不同位点的多个尼安德特人等位基因有助于皮肤和头发的颜色，而这些尼安德特人等位基因有助于浅色和深色的肤色和头发颜色，

更新日期：2017-10-05

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