The complete genome sequence of a Neanderthal from the Altai Mountains.

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Prüfer, Kay; Racimo, Fernando; Patterson, Nick; Jay, Flora; Sankararaman, Sriram; Sawyer, Susanna; Heinze, Anja; Renaud, Gabriel; Sudmant, Peter H; de Filippo, Cesare; Li, Heng; Mallick, Swapan; Dannemann, Michael; Fu, Qiaomei; Kircher, Martin; Kuhlwilm, Martin; Lachmann, Michael; Meyer, Matthias; Ongyerth, Matthias; Siebauer, Michael; Theunert, Christoph; Tandon, Arti; Moorjani, Priya; Pickrell, Joseph; Mullikin, James C; Vohr, Samuel H; Green, Richard E; Hellmann, Ines; Johnson, Philip L F; Blanche, Hélène; Cann, Howard; Kitzman, Jacob O; Shendure, Jay; Eichler, Evan E; Lein, Ed S; Bakken, Trygve E; Golovanova, Liubov V; Doronichev, Vladimir B; Shunkov, Michael V; Derevianko, Anatoli P; Viola, Bence; Slatkin, Montgomery; Reich, David; Kelso, Janet; Pääbo, Svante
Year of Publication: 2014
Journal: Nature
Volume: 505
Issue: 7481
Pagination: 43-9
Date Published: 2014 Jan 2
Publication Language: eng
ISSN: 1476-4687
Keywords: Africa, Animals, Caves, DNA Copy Number Variations, Female, Fossils, Gene Flow, Gene Frequency, Genome, Heterozygote, Humans, Inbreeding, Models, Genetic, Neanderthals, Phylogeny, Population Density, Siberia, Toe Phalanges

We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.

DOI: 10.1038/nature12886
Alternate Journal: Nature