Nature2014-06-27 2:27 PM

一个“尼安德特”女子的基因组序列 The complete genome sequence of a Neanderthal from the Altai Mountains

论文摘要 

最近在南西伯利亚阿尔泰山脉的“丹尼索瓦洞穴”中所做的挖掘工作,产生了大量原始人类化石,它们来自人类也许已定居250,000年或更长时间的一个地点。现在,一个高质量基因组序列已从距今约50,000年的一块趾骨(一块“近节趾骨”)被确定,后者是2010年从“丹尼索瓦洞穴”的东坑道挖掘出来的。该序列属于一个“尼安德特”女子,其父母是近亲——也许是异父/异母同胞或叔父-侄女关系。这种近亲繁殖在她的近祖中也普遍存在。与其他远古和当今人类基因组所做比较,显示了发生在“尼安德特人”、血缘关系相近的“丹尼索瓦人”和早期现代人类之间的几个基因流动事件,可能还包括从一个未知的远古人群向“丹尼索瓦人”的基因流动。这一高质量“尼安德特人”基因组还可帮助明确列出在现代人类与“尼安德特人”和“丹尼索瓦人”的祖先分开之后所发生的、已固定在现代人类基因组中的基因取代。

Abstract 

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.

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