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Science 17 July 2009:
Vol. 325. no. 5938, pp. 318 - 321
DOI: 10.1126/science.1174462
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Reports

Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes

Adrian W. Briggs,1,* Jeffrey M. Good,1 Richard E. Green,1 Johannes Krause,1 Tomislav Maricic,1 Udo Stenzel,1 Carles Lalueza-Fox,2 Pavao Rudan,3 Dejana Brajkovic,4 Zeljko Kucan,3 Ivan Gusic,3 Ralf Schmitz,5,6 Vladimir B. Doronichev,7 Liubov V. Golovanova,7 Marco de la Rasilla,8 Javier Fortea,8 Antonio Rosas,9 Svante Pääbo1

Analysis of Neandertal DNA holds great potential for investigating the population history of this group of hominins, but progress has been limited due to the rarity of samples and damaged state of the DNA. We present a method of targeted ancient DNA sequence retrieval that greatly reduces sample destruction and sequencing demands and use this method to reconstruct the complete mitochondrial DNA (mtDNA) genomes of five Neandertals from across their geographic range. We find that mtDNA genetic diversity in Neandertals that lived 38,000 to 70,000 years ago was approximately one-third of that in contemporary modern humans. Together with analyses of mtDNA protein evolution, these data suggest that the long-term effective population size of Neandertals was smaller than that of modern humans and extant great apes.

1 Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany.
2 Institute of Evolutionary Biology, Consejo Superior de Investigaciones Científicas, Universitat Pompeu Fabra, 08003 Barcelona, Spain.
3 Croatian Academy of Sciences and Arts, Zrinski trg 11, HR-10000 Zagreb, Croatia.
4 Croatian Academy of Sciences and Arts, Institute for Quaternary Paleontology and Geology, Ante Kovacica 5, HR-10000 Zagreb, Croatia.
5 Landschaftsverband Rheinland Landesmuseum, D-53115 Bonn, Germany.
6 Department of Early Prehistory and Quaternary Ecology, University of Tübingen, Germany.
7 Laboratory of Prehistory, St. Petersburg, Russia.
8 Área de Prehistoria Departamento de Historia Universidad de Oviedo, Oviedo, Spain.
9 Departamento de Paleobiología, Museo Nacional de Ciencias Naturales, Consejo Superior de Investigaciones Científicas, Madrid, Spain.

* To whom correspondence should be addressed. E-mail: briggs{at}eva.mpg.de

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Science. ISSN 0036-8075 (print), 1095-9203 (online)