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Science. 2010 May 7;328(5979):710-722. doi: 10.1126/science.1188021.

A draft sequence of the Neandertal genome.

Author information

1
Department of Evolutionary Genetics, Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
2
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
3
Department of Integrative Biology, University of California, Berkeley, CA 94720, USA.
4
European Molecular Biology Laboratory-European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK.
5
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
6
Program in Bioinformatics and Integrative Biology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
7
Howard Hughes Medical Institute, Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
8
Institute of Evolutionary Biology (UPF-CSIC), Dr. Aiguader 88, 08003 Barcelona, Spain.
9
Division of Biological Sciences, University of Montana, Missoula, MT 59812, USA.
10
454 Life Sciences, Branford, CT 06405, USA.
11
Department of Human Evolution, Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
12
Croatian Academy of Sciences and Arts, Zrinski trg 11, HR-10000 Zagreb, Croatia.
13
Croatian Academy of Sciences and Arts, Institute for Quaternary Paleontology and Geology, Ante Kovacica 5, HR-10000 Zagreb, Croatia.
14
ANO Laboratory of Prehistory, St. Petersburg, Russia.
15
Área de Prehistoria Departamento de Historia Universidad de Oviedo, Oviedo, Spain.
16
Departamento de Paleobiología, Museo Nacional de Ciencias Naturales, CSIC, Madrid, Spain.
17
Der Landschaftverband Rheinlund-Landesmuseum Bonn, Bachstrasse 5-9, D-53115 Bonn, Germany.
18
Abteilung für Vor- und Frühgeschichtliche Archäologie, Universität Bonn, Germany.
19
Department of Biology, Emory University, Atlanta, GA 30322, USA.
20
Department of Microbiology, University College Cork, Cork, Ireland.
21
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
#
Contributed equally

Abstract

Neandertals, the closest evolutionary relatives of present-day humans, lived in large parts of Europe and western Asia before disappearing 30,000 years ago. We present a draft sequence of the Neandertal genome composed of more than 4 billion nucleotides from three individuals. Comparisons of the Neandertal genome to the genomes of five present-day humans from different parts of the world identify a number of genomic regions that may have been affected by positive selection in ancestral modern humans, including genes involved in metabolism and in cognitive and skeletal development. We show that Neandertals shared more genetic variants with present-day humans in Eurasia than with present-day humans in sub-Saharan Africa, suggesting that gene flow from Neandertals into the ancestors of non-Africans occurred before the divergence of Eurasian groups from each other.

PMID:
20448178
PMCID:
PMC5100745
DOI:
10.1126/science.1188021
[Indexed for MEDLINE]
Free PMC Article
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