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

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Fu, Qiaomei; Li, Heng; Moorjani, Priya; Jay, Flora; Slepchenko, Sergey M; Bondarev, Aleksei A; Johnson, Philip L F; Aximu-Petri, Ayinuer; Prüfer, Kay; de Filippo, Cesare; Meyer, Matthias; Zwyns, Nicolas; Salazar-García, Domingo C; Kuzmin, Yaroslav V; Keates, Susan G; Kosintsev, Pavel A; Razhev, Dmitry I; Richards, Michael P; Peristov, Nikolai V; Lachmann, Michael; Douka, Katerina; Higham, Thomas F G; Slatkin, Montgomery; Hublin, Jean-Jacques; Reich, David; Kelso, Janet; Viola, T Bence; Pääbo, Svante
Year of Publication: 2014
Journal: Nature
Volume: 514
Issue: 7523
Pagination: 445-9
Date Published: 2014 Oct 23
Publication Language: eng
ISSN: 1476-4687
Keywords: Alleles, Animals, Chromosomes, Human, Pair 12, Diet, Evolution, Molecular, Fossils, Genome, Human, Humans, Hybridization, Genetic, Male, Molecular Sequence Data, Mutation Rate, Neanderthals, Phylogeny, Population Density, Population Dynamics, Principal Component Analysis, Sequence Analysis, DNA, Siberia

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.

DOI: 10.1038/nature13810
Alternate Journal: Nature