研究揭示尼安德特人基因渗入的本质
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研究揭示尼安德特人基因渗入的本质

文章来源:美高梅官方    时间:2020-04-26

本期文章:《自然》:Online/在线发表

近日,冰岛大学Kari Stefansson、丹麦奥尔胡斯大学Mikkel Heide Schierup和Laurits Skov小组合作,通过研究27,566个冰岛人基因组揭示了尼安德特人基因渗入的本质。这一研究成果在线发表在2020年4月22日的《自然》上。

研究人员通过对来自27,566个冰岛人的全阶段全基因组序列中检测到的1,440万个假定古染色体片段的研究,检测了尼安德特人基因渗入的影响;这些数据对应范围为56,388–112,709独特古染色体片段,覆盖了可调用基因组的38.0–48.2%。

基于与已知古基因组的相似性,研究人员将84.5%的片段与阿尔泰山脉或迪亚尼安德特人来源的基因相匹配,将3.3%的片段与丹尼索瓦人相匹配,未知来源的片段占12.2%。

研究发现,冰岛人有比预期更多的丹尼索瓦人样基因碎片。丹尼索瓦人基因流可以最好地解释这一点,它可以渗入尼安德特人的祖先,也可以直接流入人类。个体片段与同形非片段个体的内部配对比较显示,尽管在人类和尼安德特人世系分离的50万年中,虽然总体突变率相似,但相对频率不同突变类型可能是由于男性和女性世代间隔不同造成的。

最后,研究人员评估了271个表型,报告了5个由古老片段变体驱动的关联,并揭示大多数先前报道的关联可以由非古老变体解释。

研究人员表示,人类进化史随着不同群体的交融而丰富。除非洲之外的大多数人中约有2%的基因组是与尼安德特人基因的混合物,而尼安德特人的历史发生在5万至6万年前。

附:英文原文

Title: The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes

Author: Laurits Skov, Moiss Coll Maci, Garar Sveinbjrnsson, Fabrizio Mafessoni, Elise A. Lucotte, Margret S. Einarsdttir, Hakon Jonsson, Bjarni Halldorsson, Daniel F. Gudbjartsson, Agnar Helgason, Mikkel Heide Schierup, Kari Stefansson

Issue&Volume: 2020-04-22

Abstract: Human evolutionary history is rich with the interbreeding of divergent populations. Most humans outside of Africa trace about 2% of their genomes to admixture from Neanderthals, which occurred 50–60 thousand years ago1. Here we examine the effect of this event using 14.4 million putative archaic chromosome fragments that were detected in fully phased whole-genome sequences from 27,566 Icelanders, corresponding to a range of 56,388–112,709 unique archaic fragments that cover 38.0–48.2% of the callable genome. On the basis of the similarity with known archaic genomes, we assign 84.5% of fragments to an Altai or Vindija Neanderthal origin and 3.3% to Denisovan origin; 12.2% of fragments are of unknown origin. We find that Icelanders have more Denisovan-like fragments than expected through incomplete lineage sorting. This is best explained by Denisovan gene flow, either into ancestors of the introgressing Neanderthals or directly into humans. A within-individual, paired comparison of archaic fragments with syntenic non-archaic fragments revealed that, although the overall rate of mutation was similar in humans and Neanderthals during the 500 thousand years that their lineages were separate, there were differences in the relative frequencies of mutation types—perhaps due to different generation intervals for males and females. Finally, we assessed 271 phenotypes, report 5 associations driven by variants in archaic fragments and show that the majority of previously reported associations are better explained by non-archaic variants.

DOI: 10.1038/s41586-020-2225-9

Source: https://www.nature.com/articles/s41586-020-2225-9

期刊信息

Nature:《自然》,创刊于1869年。隶属于施普林格·自然出版集团,最新IF:43.07
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