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A Draft Sequence of the Neandertal Genome -- Green et al. 328 (5979): 710 (Science, abstract, edited)
[Source: Science, full PDF Document (LINK). Abstract, edited.]
Science 7 May 2010:Vol. 328. no. 5979, pp. 710 - 722
DOI: 10.1126/science.1188021
A Draft Sequence of the Neandertal Genome
Richard E. Green, 1,*, Johannes Krause,1,? Adrian W. Briggs,1,? Tomislav Maricic,1,? Udo Stenzel,1,? Martin Kircher,1,? Nick Patterson,2,? Heng Li,2, Weiwei Zhai,3,|| Markus Hsi-Yang Fritz,4, Nancy F. Hansen,5, Eric Y. Durand,3, Anna-Sapfo Malaspinas,3, Jeffrey D. Jensen,6, Tomas Marques-Bonet,7,13, Can Alkan,7, Kay Pr?fer,1, Matthias Meyer,1, Hern?n A. Burbano,1, Jeffrey M. Good,1,8, Rigo Schultz,1 Ayinuer Aximu-Petri,1 Anne Butthof,1 Barbara H?ber,1 Barbara H?ffner,1 Madlen Siegemund,1 Antje Weihmann,1 Chad Nusbaum,2 Eric S. Lander,2 Carsten Russ,2 Nathaniel Novod,2 Jason Affourtit,9 Michael Egholm,9 Christine Verna,21 Pavao Rudan,10 Dejana Brajkovic,11 Zeljko Kucan,10 Ivan Gusic,10 Vladimir B. Doronichev,12 Liubov V. Golovanova,12 Carles Lalueza-Fox,13 Marco de la Rasilla,14 Javier Fortea,14,? Antonio Rosas,15 Ralf W. Schmitz,16,17 Philip L. F. Johnson,18, Evan E. Eichler,7, Daniel Falush,19, Ewan Birney,4, James C. Mullikin,5, Montgomery Slatkin,3, Rasmus Nielsen,3, Janet Kelso,1, Michael Lachmann,1, David Reich,2,20,*, Svante P??bo1,*
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.
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 Division of Biological Sciences, University of Montana, Missoula, MT 59812, USA.
9 454 Life Sciences, Branford, CT 06405, USA.
10 Croatian Academy of Sciences and Arts, Zrinski trg 11, HR-10000 Zagreb, Croatia.
11 Croatian Academy of Sciences and Arts, Institute for Quaternary Paleontology and Geology, Ante Kovacica 5, HR-10000 Zagreb, Croatia.
12 ANO Laboratory of Prehistory, St. Petersburg, Russia.
13 Institute of Evolutionary Biology (UPF-CSIC), Dr. Aiguader 88, 08003 Barcelona, Spain.
14 ?rea de Prehistoria Departamento de Historia Universidad de Oviedo, Oviedo, Spain.
15 Departamento de Paleobiolog?a, Museo Nacional de Ciencias Naturales, CSIC, Madrid, Spain.
16 Der Landschaftverband Rheinlund?Landesmuseum Bonn, Bachstrasse 5-9, D-53115 Bonn, Germany.
17 Abteilung f?r Vor- und Fr?hgeschichtliche Arch?ologie, Universit?t Bonn, Germany.
18 Department of Biology, Emory University, Atlanta, GA 30322, USA.
19 Department of Microbiology, University College Cork, Cork, Ireland.
20 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
21 Department of Human Evolution, Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
Members of the Neandertal Genome Analysis Consortium. Back
Present address: Department of Biomolecular Engineering, University of California, Santa Cruz, CA 95064, USA.
? These authors contributed equally to this work. Back
|| Present address: Beijing Institute of Genomics, Chinese Academy of Sciences Beijing 100029, P.R. China.
? Deceased.
* To whom correspondence should be addressed. E-mail: green@eva.mpg.de (R.E.G.); reich@genetics.med.harvard.edu (D.R.); paabo@eva.mpg.de (S.P.)
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[Source: Science, full PDF Document (LINK). Abstract, edited.]
Science 7 May 2010:Vol. 328. no. 5979, pp. 710 - 722
DOI: 10.1126/science.1188021
A Draft Sequence of the Neandertal Genome
Richard E. Green, 1,*, Johannes Krause,1,? Adrian W. Briggs,1,? Tomislav Maricic,1,? Udo Stenzel,1,? Martin Kircher,1,? Nick Patterson,2,? Heng Li,2, Weiwei Zhai,3,|| Markus Hsi-Yang Fritz,4, Nancy F. Hansen,5, Eric Y. Durand,3, Anna-Sapfo Malaspinas,3, Jeffrey D. Jensen,6, Tomas Marques-Bonet,7,13, Can Alkan,7, Kay Pr?fer,1, Matthias Meyer,1, Hern?n A. Burbano,1, Jeffrey M. Good,1,8, Rigo Schultz,1 Ayinuer Aximu-Petri,1 Anne Butthof,1 Barbara H?ber,1 Barbara H?ffner,1 Madlen Siegemund,1 Antje Weihmann,1 Chad Nusbaum,2 Eric S. Lander,2 Carsten Russ,2 Nathaniel Novod,2 Jason Affourtit,9 Michael Egholm,9 Christine Verna,21 Pavao Rudan,10 Dejana Brajkovic,11 Zeljko Kucan,10 Ivan Gusic,10 Vladimir B. Doronichev,12 Liubov V. Golovanova,12 Carles Lalueza-Fox,13 Marco de la Rasilla,14 Javier Fortea,14,? Antonio Rosas,15 Ralf W. Schmitz,16,17 Philip L. F. Johnson,18, Evan E. Eichler,7, Daniel Falush,19, Ewan Birney,4, James C. Mullikin,5, Montgomery Slatkin,3, Rasmus Nielsen,3, Janet Kelso,1, Michael Lachmann,1, David Reich,2,20,*, Svante P??bo1,*
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.
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 Division of Biological Sciences, University of Montana, Missoula, MT 59812, USA.
9 454 Life Sciences, Branford, CT 06405, USA.
10 Croatian Academy of Sciences and Arts, Zrinski trg 11, HR-10000 Zagreb, Croatia.
11 Croatian Academy of Sciences and Arts, Institute for Quaternary Paleontology and Geology, Ante Kovacica 5, HR-10000 Zagreb, Croatia.
12 ANO Laboratory of Prehistory, St. Petersburg, Russia.
13 Institute of Evolutionary Biology (UPF-CSIC), Dr. Aiguader 88, 08003 Barcelona, Spain.
14 ?rea de Prehistoria Departamento de Historia Universidad de Oviedo, Oviedo, Spain.
15 Departamento de Paleobiolog?a, Museo Nacional de Ciencias Naturales, CSIC, Madrid, Spain.
16 Der Landschaftverband Rheinlund?Landesmuseum Bonn, Bachstrasse 5-9, D-53115 Bonn, Germany.
17 Abteilung f?r Vor- und Fr?hgeschichtliche Arch?ologie, Universit?t Bonn, Germany.
18 Department of Biology, Emory University, Atlanta, GA 30322, USA.
19 Department of Microbiology, University College Cork, Cork, Ireland.
20 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
21 Department of Human Evolution, Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
Members of the Neandertal Genome Analysis Consortium. Back
Present address: Department of Biomolecular Engineering, University of California, Santa Cruz, CA 95064, USA.
? These authors contributed equally to this work. Back
|| Present address: Beijing Institute of Genomics, Chinese Academy of Sciences Beijing 100029, P.R. China.
? Deceased.
* To whom correspondence should be addressed. E-mail: green@eva.mpg.de (R.E.G.); reich@genetics.med.harvard.edu (D.R.); paabo@eva.mpg.de (S.P.)
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