Genome sequence of a 45,000-year-old modern human from western Siberia

Qiaomei Fu (), Heng Li, Priya Moorjani, Flora Jay, Sergey M. Slepchenko, Aleksei A. Bondarev, Philip L. F. Johnson, Ayinuer Aximu-Petri, Kay Prüfer, Cesare de Filippo, Matthias Meyer, Nicolas Zwyns, Domingo C. Salazar-García, Yaroslav V. Kuzmin, Susan G. Keates, Pavel A. Kosintsev, Dmitry I. Razhev, Michael P. Richards, Nikolai V. Peristov, Michael Lachmann, Katerina Douka, Thomas F. G. Higham, Montgomery Slatkin, Jean-Jacques Hublin, David Reich (), Janet Kelso (), T. Bence Viola () and Svante Pääbo
Additional contact information
Qiaomei Fu: Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100044, China
Heng Li: Broad Institute of MIT and Harvard
Priya Moorjani: Broad Institute of MIT and Harvard
Flora Jay: University of California
Sergey M. Slepchenko: Institute for Problems of the Development of the North, Siberian Branch of the Russian Academy of Sciences, Tyumen 625026, Russia
Aleksei A. Bondarev: Expert Criminalistics Center, Omsk 644007, Russia
Philip L. F. Johnson: Emory University
Ayinuer Aximu-Petri: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Kay Prüfer: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Cesare de Filippo: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Matthias Meyer: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Nicolas Zwyns: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Domingo C. Salazar-García: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Yaroslav V. Kuzmin: Institute of Geology and Mineralogy, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia
Susan G. Keates: Institute of Geology and Mineralogy, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia
Pavel A. Kosintsev: Institute of Plant and Animal Ecology, Urals Branch of the Russian Academy of Sciences, Yekaterinburg 620144, Russia
Dmitry I. Razhev: Institute for Problems of the Development of the North, Siberian Branch of the Russian Academy of Sciences, Tyumen 625026, Russia
Michael P. Richards: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Nikolai V. Peristov: Siberian Cultural Center, Omsk 644010, Russia
Michael Lachmann: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Katerina Douka: Oxford Radiocarbon Accelerator Unit, Research Laboratory for Archaeology and the History of Art, University of Oxford, Oxford OX1 3QY, UK
Thomas F. G. Higham: Oxford Radiocarbon Accelerator Unit, Research Laboratory for Archaeology and the History of Art, University of Oxford, Oxford OX1 3QY, UK
Montgomery Slatkin: University of California
Jean-Jacques Hublin: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
David Reich: Broad Institute of MIT and Harvard
Janet Kelso: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
T. Bence Viola: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
Svante Pääbo: Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany

Nature, 2014, vol. 514, issue 7523, 445-449

Abstract: Abstract We present the high-quality genome sequence of a ∼45,000-year-old modern human male from Siberia. This individual derives from a population that lived before—or simultaneously with—the separation of the populations in western and eastern Eurasia and carries a similar amount of Neanderthal ancestry as present-day Eurasians. However, the genomic segments of Neanderthal ancestry are substantially longer than those observed in present-day individuals, indicating that Neanderthal gene flow into the ancestors of this individual occurred 7,000–13,000 years before he lived. We estimate an autosomal mutation rate of 0.4 × 10−9 to 0.6 × 10−9 per site per year, a Y chromosomal mutation rate of 0.7 × 10−9 to 0.9 × 10−9 per site per year based on the additional substitutions that have occurred in present-day non-Africans compared to this genome, and a mitochondrial mutation rate of 1.8 × 10−8 to 3.2 × 10−8 per site per year based on the age of the bone.

Date: 2014
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DOI: 10.1038/nature13810

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