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

doi:10.1038/s41586-020-2225-9

GSTDTAP > 地球科学

DOI	10.1038/s41586-020-2225-9
	The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes
	Kindem, Jonathan M.1,2,3,4,5,6; Ruskuc, Andrei 1,2,3; Bartholomew, John G.1,2,3,7; Rochman, Jake 1,2,3; Huan, Yan Qi 1,2,3,8; Faraon, Andrei 1,2,3
	2020-03-30
发表期刊	NATURE
ISSN	0028-0836
EISSN	1476-4687
出版年	2020
文章类型	Article;Early Access
语种	英语
国家	Denmark; Germany; Iceland
英文关键词	Analysis of Icelandic genomes reveals chromosome fragments of Neanderthal and Denisovan origin, the latter of which occurred through Denisovan gene flow either into ancestors of the Neanderthals or directly into humans. 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 ago(1). 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.
领域	地球科学 ; 气候变化 ; 资源环境
收录类别	SCI-E
WOS记录号	WOS:000528161900002
WOS关键词	MODERN HUMANS ; SEQUENCE ; ADMIXTURE ; ANCESTRY ; LANDSCAPE ; HISTORY
WOS类目	Multidisciplinary Sciences
WOS研究方向	Science & Technology - Other Topics
引用统计
文献类型	期刊论文
条目标识符	http://119.78.100.173/C666/handle/2XK7JSWQ/281036
专题	地球科学资源环境科学气候变化
作者单位	1.CALTECH, Thomas J Watson Sr Lab Appl Phys, Pasadena, CA 91125 USA; 2.CALTECH, Kavli Nanosci Inst, Pasadena, CA 91125 USA; 3.CALTECH, Inst Quantum Informat & Matter, Pasadena, CA 91125 USA; 4.Univ Colorado, JILA, Boulder, CO 80309 USA; 5.NIST, Boulder, CO USA; 6.Univ Colorado, Dept Phys, Boulder, CO 80309 USA; 7.Univ Sydney, Sch Phys, Sydney, NSW, Australia; 8.ASTAR, IMRE, Singapore, Singapore
推荐引用方式 GB/T 7714	Kindem, Jonathan M.,Ruskuc, Andrei,Bartholomew, John G.,et al. The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes[J]. NATURE,2020.
APA	Kindem, Jonathan M.,Ruskuc, Andrei,Bartholomew, John G.,Rochman, Jake,Huan, Yan Qi,&Faraon, Andrei.(2020).The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes.NATURE.
MLA	Kindem, Jonathan M.,et al."The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes".NATURE (2020).