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

[1]  M. Jakobsson,et al.  Archaic human ancestry in East Asia , 2011, Proceedings of the National Academy of Sciences.

[2]  G. Schmiedl,et al.  The role of climate in the spread of modern humans into Europe , 2011 .

[3]  B. Vandermeersch Les hommes fossiles de Qafzeh, Israël , 1981 .

[4]  S. Kuhn,et al.  Rethinking the initial Upper Paleolithic , 2014 .

[5]  R. Durbin,et al.  Revising the human mutation rate: implications for understanding human evolution , 2012, Nature Reviews Genetics.

[6]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[7]  Martin Kircher,et al.  Improved base calling for the Illumina Genome Analyzer using machine learning strategies , 2009, Genome Biology.

[8]  R. Mägi,et al.  Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans , 2013, Nature.

[9]  Erik Trinkaus,et al.  Isotopic evidence for the diets of European Neanderthals and early modern humans , 2009, Proceedings of the National Academy of Sciences.

[10]  Marc A Suchard,et al.  A Bayesian phylogenetic method to estimate unknown sequence ages. , 2011, Molecular biology and evolution.

[11]  J. Hublin The earliest modern human colonization of Europe , 2012, Proceedings of the National Academy of Sciences.

[12]  Bonnie Berger,et al.  Ancient human genomes suggest three ancestral populations for present-day Europeans , 2013, Nature.

[13]  Stephen R. Quake,et al.  Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm , 2012, Cell.

[14]  Yong Wang,et al.  An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia , 2011, Science.

[15]  Philip L. F. Johnson,et al.  The complete genome sequence of a Neandertal from the Altai Mountains , 2013, Nature.

[16]  Kevin E. Langergraber,et al.  Generation times in wild chimpanzees and gorillas suggest earlier divergence times in great ape and human evolution , 2012, Proceedings of the National Academy of Sciences.

[17]  Philip L. F. Johnson,et al.  Genetic history of an archaic hominin group from Denisova Cave in Siberia , 2010, Nature.

[18]  Philip L. F. Johnson,et al.  The complete genome sequence of a Neanderthal from the Altai Mountains , 2013 .

[19]  Adrian W. Briggs,et al.  A High-Coverage Genome Sequence from an Archaic Denisovan Individual , 2012, Science.

[20]  R. Durbin,et al.  Inference of human population history from individual whole-genome sequences. , 2011, Nature.

[21]  Swapan Mallick,et al.  Ancient Admixture in Human History , 2012, Genetics.

[22]  M. Hattori,et al.  Comparative analysis of chimpanzee and human Y chromosomes unveils complex evolutionary pathway , 2006, Nature Genetics.

[23]  C. Ramsey,et al.  Reliability of Nitrogen Content (%N) and Carbon:Nitrogen Atomic Ratios (C:N) as Indicators of Collagen Preservation Suitable for Radiocarbon Dating , 2012, Radiocarbon.

[24]  Arcadi Navarro,et al.  Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European , 2014, Nature.

[25]  C. Ramsey,et al.  Calibration for Archaeological and Environmental Terrestrial Samples in the Time Range 26–50 ka cal BP , 2013, Radiocarbon.

[26]  Jack N. Fenner,et al.  Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies. , 2005, American journal of physical anthropology.

[27]  D. Reich,et al.  The Date of Interbreeding between Neandertals and Modern Humans , 2012, PLoS genetics.

[28]  A. Derevianko,et al.  Dating the Middle-to-Upper-Paleolithic Transition at Kara-Bom , 1993, Current Anthropology.

[29]  H. Breuil,et al.  The Stone Age of Mount Carmel: , 1938, Nature.

[30]  C. Buck,et al.  IntCal13 and Marine13 Radiocarbon Age Calibration Curves 0–50,000 Years cal BP , 2013, Radiocarbon.

[31]  Sergey Koren,et al.  The bonobo genome compared with the chimpanzee and human genomes , 2012, Nature.

[32]  C. Ruff,et al.  Diaphyseal Cross-sectional Geometry of Near Eastern Middle Palaeolithic Humans: The Tibia , 1999 .

[33]  Philip L. F. Johnson,et al.  A Revised Timescale for Human Evolution Based on Ancient Mitochondrial Genomes , 2013, Current Biology.

[34]  D. Reich,et al.  Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania. , 2011, American journal of human genetics.

[35]  A. Redd,et al.  A nomenclature system for the tree of human Y-chromosomal binary haplogroups. , 2002, Genome research.

[36]  Huanming Yang,et al.  Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree , 2009, Current Biology.