Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.
Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA.
Nature. 2014 Jan 2;505(7481):43-9. doi: 10.1038/nature12886. Epub 2013 Dec 18.
We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.
我们呈现了一位西伯利亚尼安德特女性的高质量基因组序列。我们表明,她的父母是同父异母或同母异父的兄弟姐妹,并且在她的近亲中,近亲交配是很常见的。我们还对一个来自高加索地区的尼安德特人进行了低覆盖率的基因组测序。对现有古人类基因组和 25 个现代人类基因组的关系和种群历史的分析表明,尼安德特人、丹尼索瓦人和早期现代人之间发生了几次基因流事件,可能包括一个未知古人类群体向丹尼索瓦人的基因流。因此,晚更新世许多人类群体之间发生了杂交,尽管杂交程度较低。此外,高质量的尼安德特人基因组使我们能够确定在现代人与尼安德特人和丹尼索瓦人的祖先分离后,在现代人类中固定下来的替代突变的明确列表。