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Science DOI:10.1126/science.1188021

A draft sequence of the Neandertal genome.

Publication TypeJournal Article
Year of Publication2010
AuthorsGreen, RE, Krause, J, Briggs, AW, Maricic, T, Stenzel, U, Kircher, M, Patterson, N, Li, H, Zhai, W, Fritz, MHsi-Yang, Hansen, NF, Durand, EY, Malaspinas, A-S, Jensen, JD, Marques-Bonet, T, Alkan, C, Prüfer, K, Meyer, M, Burbano, HA, Good, JM, Schultz, R, Aximu-Petri, A, Butthof, A, Höber, B, Höffner, B, Siegemund, M, Weihmann, A, Nusbaum, C, Lander, ES, Russ, C, Novod, N, Affourtit, J, Egholm, M, Verna, C, Rudan, P, Brajkovic, D, Kucan, Z, Gusic, I, Doronichev, VB, Golovanova, LV, Lalueza-Fox, C, de la Rasilla, M, Fortea, J, Rosas, A, Schmitz, RW, Johnson, PLF, Eichler, EE, Falush, D, Birney, E, Mullikin, JC, Slatkin, M, Nielsen, R, Kelso, J, Lachmann, M, Reich, D, Pääbo, S
Date Published2010 May 07
KeywordsAfrican Continental Ancestry Group, Animals, Asian Continental Ancestry Group, Base Sequence, Bone and Bones, DNA, Mitochondrial, European Continental Ancestry Group, Evolution, Molecular, Extinction, Biological, Female, Fossils, Gene Dosage, Gene Flow, Genetic Variation, Genome, Genome, Human, Haplotypes, Hominidae, Humans, Pan troglodytes, Polymorphism, Single Nucleotide, Selection, Genetic, Sequence Alignment, Sequence Analysis, DNA, Time

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.


Alternate JournalScience
PubMed ID20448178
PubMed Central IDPMC5100745
Grant ListR01 GM040282 / GM / NIGMS NIH HHS / United States
GM40282 / GM / NIGMS NIH HHS / United States
/ / Howard Hughes Medical Institute / United States
/ / Intramural NIH HHS / United States