Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100044, China.
Nature. 2018 Mar 29;555(7698):652-656. doi: 10.1038/nature26151. Epub 2018 Mar 21.
Although it has previously been shown that Neanderthals contributed DNA to modern humans, not much is known about the genetic diversity of Neanderthals or the relationship between late Neanderthal populations at the time at which their last interactions with early modern humans occurred and before they eventually disappeared. Our ability to retrieve DNA from a larger number of Neanderthal individuals has been limited by poor preservation of endogenous DNA and contamination of Neanderthal skeletal remains by large amounts of microbial and present-day human DNA. Here we use hypochlorite treatment of as little as 9 mg of bone or tooth powder to generate between 1- and 2.7-fold genomic coverage of five Neanderthals who lived around 39,000 to 47,000 years ago (that is, late Neanderthals), thereby doubling the number of Neanderthals for which genome sequences are available. Genetic similarity among late Neanderthals is well predicted by their geographical location, and comparison to the genome of an older Neanderthal from the Caucasus indicates that a population turnover is likely to have occurred, either in the Caucasus or throughout Europe, towards the end of Neanderthal history. We find that the bulk of Neanderthal gene flow into early modern humans originated from one or more source populations that diverged from the Neanderthals that were studied here at least 70,000 years ago, but after they split from a previously sequenced Neanderthal from Siberia around 150,000 years ago. Although four of the Neanderthals studied here post-date the putative arrival of early modern humans into Europe, we do not detect any recent gene flow from early modern humans in their ancestry.
虽然先前已经证明尼安德特人向现代人类贡献了 DNA，但对于尼安德特人的遗传多样性，以及在他们与早期现代人类最后一次互动并最终消失之前的晚期尼安德特人群体之间的关系，我们知之甚少。我们从大量尼安德特人个体中获取 DNA 的能力受到内源性 DNA 保存不佳以及尼安德特人骨骼遗骸中大量微生物和现代人类 DNA 污染的限制。在这里，我们使用次氯酸钠处理，仅用 9 毫克的骨粉或牙粉，就能生成五个生活在大约 39000 到 47000 年前（即晚期尼安德特人）的尼安德特人的基因组覆盖率为 1 到 2.7 倍，从而使可获得基因组序列的尼安德特人数量增加了一倍。晚期尼安德特人之间的遗传相似性很好地预测了他们的地理位置，并且与来自高加索地区的较老尼安德特人的基因组比较表明，人口更替很可能发生在高加索地区或欧洲各地，就在尼安德特人历史的末期。我们发现，早期现代人类中大量的尼安德特人基因流起源于一个或多个与这里研究的尼安德特人至少在 70000 年前分化的源种群，但在他们与大约 150000 年前从西伯利亚测序的尼安德特人分裂之后。尽管这里研究的四个尼安德特人晚于早期现代人类进入欧洲的推测时间，但我们没有在他们的祖先中检测到任何来自早期现代人类的近期基因流。
