Genomic analyses inform on migration events during the peopling of Eurasia

Luca Pagani, Daniel Lawson, Evelyn Jagoda, Alexander Morseburg, A Eriksson, Mario Mitt, Toomas Kivisild, Mait Metspalu

Research output: Contribution to journalArticle (Academic Journal)peer-review

177 Citations (Scopus)
292 Downloads (Pure)

Abstract

High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans10. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.
Original languageEnglish
Pages (from-to)238-242
Number of pages5
JournalNature
Volume538
Issue number7624
Early online date21 Sep 2016
DOIs
Publication statusPublished - 13 Oct 2016

Keywords

  • Population dynamics
  • Genome evolution
  • Evolutionary genetics
  • Biological anthropology
  • Evolutionary biology

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