Identifying and Interpreting Apparent Neanderthal Ancestry in African Individuals.,Cell

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Identifying and Interpreting Apparent Neanderthal Ancestry in African Individuals.
Cell ( IF 45.5 ) Pub Date : 2020-01-30 , DOI: 10.1016/j.cell.2020.01.012
Lu Chen ₁ , Aaron B Wolf ₂ , Wenqing Fu ₃ , Liming Li ₁ , Joshua M Akey ₁

Affiliation

Admixture has played a prominent role in shaping patterns of human genomic variation, including gene flow with now-extinct hominins like Neanderthals and Denisovans. Here, we describe a novel probabilistic method called IBDmix to identify introgressed hominin sequences, which, unlike existing approaches, does not use a modern reference population. We applied IBDmix to 2,504 individuals from geographically diverse populations to identify and analyze Neanderthal sequences segregating in modern humans. Strikingly, we find that African individuals carry a stronger signal of Neanderthal ancestry than previously thought. We show that this can be explained by genuine Neanderthal ancestry due to migrations back to Africa, predominately from ancestral Europeans, and gene flow into Neanderthals from an early dispersing group of humans out of Africa. Our results refine our understanding of Neanderthal ancestry in African and non-African populations and demonstrate that remnants of Neanderthal genomes survive in every modern human population studied to date.

中文翻译：

在非洲个体中识别和解释明显的穴居人祖先。

外来剂在塑造人类基因组变异的模式中发挥了重要作用，包括与现已灭绝的人种如尼安德特人和丹尼索瓦人的基因流动。在这里，我们描述了一种新的概率方法，称为IBDmix来识别渗入的人参序列，与现有方法不同，该方法不使用现代参考群体。我们将IBDmix应用于来自不同地理区域的2,504个人，以识别和分析现代人类中分离的尼安德特人序列。令人惊讶的是，我们发现非洲人带有尼安德特人血统的强烈信号比以前想象的要强。我们表明，这可以用真正的尼安德特人血统来解释，这是由于迁移回非洲（主要是从祖先欧洲人那里回来），以及基因从早期散布于非洲的人类群体流入尼安德特人。

更新日期：2020-01-31

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