PT - JOURNAL ARTICLE AU - Martin Sikora AU - Vladimir V. Pitulko AU - Vitor C. Sousa AU - Morten E. Allentoft AU - Lasse Vinner AU - Simon Rasmussen AU - Ashot Margaryan AU - Peter de Barros Damgaard AU - Constanza de la Fuente Castro AU - Gabriel Renaud AU - Melinda Yang AU - Qiaomei Fu AU - Isabelle Dupanloup AU - Konstantinos Giampoudakis AU - David Bravo Nogues AU - Carsten Rahbek AU - Guus Kroonen AU - Michäel Peyrot AU - Hugh McColl AU - Sergey V. Vasilyev AU - Elizaveta Veselovskaya AU - Margarita Gerasimova AU - Elena Y. Pavlova AU - Vyacheslav G. Chasnyk AU - Pavel A. Nikolskiy AU - Pavel S. Grebenyuk AU - Alexander Yu. Fedorchenko AU - Alexander I. Lebedintsev AU - Sergey B. Slobodin AU - Boris A. Malyarchuk AU - Rui Martiniano AU - Morten Meldgaard AU - Laura Arppe AU - Jukka U. Palo AU - Tarja Sundell AU - Kristiina Mannermaa AU - Mikko Putkonen AU - Verner Alexandersen AU - Charlotte Primeau AU - Ripan Mahli AU - Karl-Göran Sjögren AU - Kristian Kristiansen AU - Anna Wessman AU - Antti Sajantila AU - Marta Mirazon Lahr AU - Richard Durbin AU - Rasmus Nielsen AU - David J. Meltzer AU - Laurent Excoffier AU - Eske Willerslev TI - The population history of northeastern Siberia since the Pleistocene AID - 10.1101/448829 DP - 2018 Jan 01 TA - bioRxiv PG - 448829 4099 - http://biorxiv.org/content/early/2018/10/22/448829.short 4100 - http://biorxiv.org/content/early/2018/10/22/448829.full AB - Far northeastern Siberia has been occupied by humans for more than 40 thousand years. Yet, owing to a scarcity of early archaeological sites and human remains, its population history and relationship to ancient and modern populations across Eurasia and the Americas are poorly understood. Here, we analyze 34 ancient genome sequences, including two from fragmented milk teeth found at the ~31.6 thousand-year-old (kya) Yana RHS site, the earliest and northernmost Pleistocene human remains found. These genomes reveal complex patterns of past population admixture and replacement events throughout northeastern Siberia, with evidence for at least three large-scale human migrations into the region. The first inhabitants, a previously unknown population of “Ancient North Siberians” (ANS), represented by Yana RHS, diverged ~38 kya from Western Eurasians, soon after the latter split from East Asians. Between 20 and 11 kya, the ANS population was largely replaced by peoples with ancestry related to present-day East Asians, giving rise to ancestral Native Americans and “Ancient Paleosiberians” (AP), represented by a 9.8 kya skeleton from Kolyma River. AP are closely related to the Siberian ancestors of Native Americans, and ancestral to contemporary communities such as Koryaks and Itelmen. Paleoclimatic modelling shows evidence for a refuge during the last glacial maximum (LGM) in southeastern Beringia, suggesting Beringia as a possible location for the admixture forming both ancestral Native Americans and AP. Between 11 and 4 kya, AP were in turn largely replaced by another group of peoples with ancestry from East Asia, the “Neosiberians” from which many contemporary Siberians derive. We detect gene flow events in both directions across the Bering Strait during this time, influencing the genetic composition of Inuit, as well as Na Dene-speaking Northern Native Americans, whose Siberian-related ancestry components is closely related to AP. Our analyses reveal that the population history of northeastern Siberia was highly dynamic throughout the Late Pleistocene and Holocene. The pattern observed in northeastern Siberia, with earlier, once widespread populations being replaced by distinct peoples, seems to have taken place across northern Eurasia, as far west as Scandinavia.