We sequenced the genome of a Neandertal from Chagyrskaya Cave in the Altai Mountains, Russia, to 27-fold genomic coverage. We show that this Neandertal was a female and that she was more related to Neandertals in western Eurasia [Prüfer et al., Science 358, 655–658 (2017); Hajdinjak et al., Nature 555, 652–656 (2018)] than to Neandertals who lived earlier in Denisova Cave [Prüfer et al., Nature 505, 43–49 (2014)], which is located about 100 km away. About 12.9% of the Chagyrskaya genome is spanned by homozygous regions that are between 2.5 and 10 centiMorgans (cM) long. This is consistent with the fact that Siberian Neandertals lived in relatively isolated populations of less than 60 individuals. In contrast, a Neandertal from Europe, a Denisovan from the Altai Mountains, and ancient modern humans seem to have lived in populations of larger sizes. The availability of three Neandertal genomes of high quality allows a view of genetic features that were unique to Neandertals and that are likely to have been at high frequency among them. We find that genes highly expressed in the striatum in the basal ganglia of the brain carry more amino-acid-changing substitutions than genes expressed elsewhere in the brain, suggesting that the striatum may have evolved unique functions in Neandertals.

我们对俄罗斯阿尔泰山的Chagyrskaya洞穴的尼安德特人的基因组进行了测序，测序覆盖了27倍的基因组。我们表明，这名尼安德特人是女性，而且她与欧亚大陆西部的尼安德特人更加相关[Prüfer等人，Science 358，655-658（2017）; Hajdinjak等人，Nature 555，652–656（2018）]比居住在Denisova洞穴中更早的尼安德特人[Prüfer等人，Nature 505，43–49（2014）]，距离酒店约100公里。Chagyrskaya基因组中约12.9％的纯合区域跨度在2.5至10厘摩（cM）之间。这与西伯利亚尼安德特人生活在相对孤立的人口少于60人的事实是一致的。相比之下，来自欧洲的尼安德特人，来自阿尔泰山脉的Denisovan和古代现代人类似乎生活在更大的人群中。三个高质量的尼安德特人基因组的可用性使人们可以观察到尼安德特人独特的遗传特征，并且这些遗传特征在其中的频率可能很高。我们发现，在大脑基底神经节的纹状体中高表达的基因比在大脑中其他地方表达的基因具有更多的氨基酸改变取代，这表明纹状体可能已在尼安德特人中演化出独特的功能。