Vol. 328 no. 5979 pp. 710-722
DOI: 10.1126/science.1188021
•Research Article
A Draft Sequence of the Neandertal Genome
Richard E. Green1,*†‡, Johannes Krause1,†§, Adrian W. Briggs1,†§, Tomislav Maricic1,†§, Udo Stenzel1,†§, Martin Kircher1,†§, Nick Patterson2,†§, Heng Li2,†, Weiwei Zhai3,†||, Markus Hsi-Yang Fritz4,†, Nancy F. Hansen5,†, Eric Y. Durand3,†, Anna-Sapfo Malaspinas3,†, Jeffrey D. Jensen6,†, Tomas Marques-Bonet7,13,†, Can Alkan7,†, Kay Prüfer1,†, Matthias Meyer1,†, Hernán A. Burbano1,†, Jeffrey M. Good1,8,†, Rigo Schultz1, Ayinuer Aximu-Petri1, Anne Butthof1, Barbara Höber1, Barbara Höffner1, Madlen Siegemund1, Antje Weihmann1, Chad Nusbaum2, Eric S. Lander2, Carsten Russ2, Nathaniel Novod2, Jason Affourtit9, Michael Egholm9, Christine Verna21, Pavao Rudan10, Dejana Brajkovic11, Željko Kucan10, Ivan Gušic10, Vladimir B. Doronichev12, Liubov V. Golovanova12, Carles Lalueza-Fox13, Marco de la Rasilla14, Javier Fortea14,¶, Antonio Rosas15, Ralf W. Schmitz16,17, Philip L. F. Johnson18,†, Evan E. Eichler7,†, Daniel Falush19,†, Ewan Birney4,†, James C. Mullikin5,†, Montgomery Slatkin3,†, Rasmus Nielsen3,†, Janet Kelso1,†, Michael Lachmann1,†, David Reich2,20,*† and Svante Pääbo1,*
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.
http://www.sciencemag.org/content/328/5979/710.short