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Nature DOI:10.1038/nature12886

The complete genome sequence of a Neanderthal from the Altai Mountains.

Publication TypeJournal Article
Year of Publication2014
AuthorsPrüfer, K, Racimo, F, Patterson, N, Jay, F, Sankararaman, S, Sawyer, S, Heinze, A, Renaud, G, Sudmant, PH, de Filippo, C, Li, H, Mallick, S, Dannemann, M, Fu, Q, Kircher, M, Kuhlwilm, M, Lachmann, M, Meyer, M, Ongyerth, M, Siebauer, M, Theunert, C, Tandon, A, Moorjani, P, Pickrell, J, Mullikin, JC, Vohr, SH, Green, RE, Hellmann, I, Johnson, PLF, Blanche, H, Cann, H, Kitzman, JO, Shendure, J, Eichler, EE, Lein, ES, Bakken, TE, Golovanova, LV, Doronichev, VB, Shunkov, MV, Derevianko, AP, Viola, B, Slatkin, M, Reich, D, Kelso, J, Pääbo, S
JournalNature
Volume505
Issue7481
Pages43-9
Date Published2014 Jan 02
ISSN1476-4687
KeywordsAfrica, Animals, Caves, DNA Copy Number Variations, Female, Fossils, Gene Flow, Gene Frequency, Genome, Heterozygote, Humans, Inbreeding, Models, Genetic, Neanderthals, Phylogeny, Population Density, Siberia, Toe Phalanges
Abstract

We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.

URLhttp://dx.doi.org/10.1038/nature12886
DOI10.1038/nature12886
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24352235?dopt=Abstract

Alternate JournalNature
PubMed ID24352235
PubMed Central IDPMC4031459
Grant ListR01-GM40282 / GM / NIGMS NIH HHS / United States
59107334 / / Howard Hughes Medical Institute / United States
R01 GM100233 / GM / NIGMS NIH HHS / United States
R01 GM040282 / GM / NIGMS NIH HHS / United States
HG002385 / HG / NHGRI NIH HHS / United States
HG006283 / HG / NHGRI NIH HHS / United States
/ / Howard Hughes Medical Institute / United States
GM100233 / GM / NIGMS NIH HHS / United States
R01 HG006283 / HG / NHGRI NIH HHS / United States
R01 HG002385 / HG / NHGRI NIH HHS / United States