bioRxivGenomicsPreprint
A high-coverage genome from a 200,000-year-old Denisovan
Stéphane PeyrégneiD, Diyendo MassilaniiD, Yaniv SwieliD, Michael James BoyleiD, Leonardo Nicola Martin IasiiD, Arev Pelin SümeriD, Alba Bossoms MesaiD, Cesare de FilippoiD, Bence ViolaiD, Elena EsseliD, Sarah Nagel, Júlia RichteriD, Antje Weihmann, Barbara Schellbach, Hugo ZebergiD, Johann VisagieiD, Maxim B. KozlikiniD, Michael V. Shunkov, Anatoly P. DereviankoiD, Kay PrüferiD, Benjamin Marco PeteriD, Matthias MeyeriD, Svante PääboiD, Janet F. KelsoiD
- Citations
- 14
Abstract
Denisovans, an extinct sister group of Neandertals who lived in Eastern Eurasia during the Middle and Late Pleistocene, are known only from a handful of skeletal remains and limited genetic data, including the high-coverage genome of a woman who lived [~]65,000 years ago. Here, we present a second high-quality Denisovan genome, reconstructed from a molar found at Denisova Cave. It belonged to a man who lived [~]200,000 years ago in a small Denisovan group. This group mixed with early Neandertals and was then replaced by Denisovans who had mixed with later Neandertals. We show that in addition Denisovans received gene flow from hominins that diverged before the split of the ancestors of Denisovans and modern humans. The two Denisovan genomes allow us to disentangle Denisovan ancestry in present-day humans revealing contributions from at least three distinct Denisovan groups. In particular, Oceanians and South Asians independently inherited DNA from a deeply diverged Denisovan population which was likely isolated in South Asia. This supports an early migration of the ancestors of Oceanians through South Asia followed by the later arrival of the ancestors of present-day South Asians. East Asians do not share this Denisovan component in their genomes, suggesting that their ancestors arrived independently, perhaps by a northerly route. Finally, the two high-quality Denisovan genomes allow us to refine the catalogue of genetic changes that arose on the Denisovan lineage, some of which were contributed to present-day humans.
- organism: human
- assay: whole-genome sequencing
- research focus: phylogenetics / evolution
- research focus: GWAS / association mapping
- research focus: database / resource
- approach: statistical model
- approach: experimental assay
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