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The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes 期刊论文
NATURE, 2020
作者:  Kindem, Jonathan M.;  Ruskuc, Andrei;  Bartholomew, John G.;  Rochman, Jake;  Huan, Yan Qi;  Faraon, Andrei
收藏  |  浏览/下载:16/0  |  提交时间:2020/07/03

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.


  
Ancient West African foragers in the context of African population history 期刊论文
NATURE, 2020, 577 (7792) : 665-+
作者:  Grunwald, Hannah A.;  Gantz, Valentino M.;  Poplawski, Gunnar;  Xu, Xiang-Ru S.;  Bier, Ethan;  Cooper, Kimberly L.
收藏  |  浏览/下载:22/0  |  提交时间:2020/07/03

Genome-wide ancestry profiles of four individuals, dating to 8,000 and 3,000 years before present, from the archaeological site of Shum Laka (Cameroon) shed light on the deep population history of sub-Saharan Africa.


Our knowledge of ancient human population structure in sub-Saharan Africa, particularly prior to the advent of food production, remains limited. Here we report genome-wide DNA data from four children-two of whom were buried approximately 8,000 years ago and two 3,000 years ago-from Shum Laka (Cameroon), one of the earliest known archaeological sites within the probable homeland of the Bantu language group(1-11). One individual carried the deeply divergent Y chromosome haplogroup A00, which today is found almost exclusively in the same region(12,13). However, the genome-wide ancestry profiles of all four individuals are most similar to those of present-day hunter-gatherers from western Central Africa, which implies that populations in western Cameroon today-as well as speakers of Bantu languages from across the continent-are not descended substantially from the population represented by these four people. We infer an Africa-wide phylogeny that features widespread admixture and three prominent radiations, including one that gave rise to at least four major lineages deep in the history of modern humans.


  
Early Pleistocene enamel proteome from Dmanisi resolves Stephanorhinus phylogeny 期刊论文
NATURE, 2019, 574 (7776) : 103-+
作者:  Cappellini, Enrico;  Welker, Frido;  Pandolfi, Luca;  Ramos-Madrigal, Jazmin;  Samodova, Diana;  Ruther, Patrick L.;  Fotakis, Anna K.;  Lyon, David;  Moreno-Mayar, J. Victor;  Bukhsianidze, Maia;  Jersie-Christensen, Rosa Rakownikow;  Mackie, Meaghan;  Ginolhac, Aurelien;  Ferring, Reid;  Tappen, Martha;  Palkopoulou, Eleftheria;  Dickinson, Marc R.;  Stafford, Thomas W., Jr.;  Chan, Yvonne L.;  Gotherstrom, Anders;  Nathan, Senthilvel K. S. S.;  Heintzman, Peter D.;  Kapp, Joshua D.;  Kirillova, Irina;  Moodley, Yoshan;  Agusti, Jordi;  Kahlke, Ralf-Dietrich;  Kiladze, Gocha;  Martinez-Navarro, Bienvenido;  Liu, Shanlin;  Velasco, Marcela Sandoval;  Sinding, Mikkel-Holger S.;  Kelstrup, Christian D.;  Allentoft, Morten E.;  Orlando, Ludovic;  Penkman, Kirsty;  Shapiro, Beth;  Rook, Lorenzo;  Dalen, Love;  Gilbert, M. Thomas P.;  Olsen, Jesper V.;  Lordkipanidze, David;  Willerslev, Eske
收藏  |  浏览/下载:16/0  |  提交时间:2019/11/27