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Originally published in Science Express on 29 May 2008
Science 27 June 2008:
Vol. 320. no. 5884, pp. 1787 - 1789
DOI: 10.1126/science.1159750
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Reports

Paleo-Eskimo mtDNA Genome Reveals Matrilineal Discontinuity in Greenland

M. Thomas P. Gilbert,1 Toomas Kivisild,2 Bjarne Grønnow,3 Pernille K. Andersen,4 Ene Metspalu,5 Maere Reidla,5 Erika Tamm,5 Erik Axelsson,1 Anders Götherström,6 Paula F. Campos,1 Morten Rasmussen,1 Mait Metspalu,5 Thomas F. G. Higham,7 Jean-Luc Schwenninger,7 Roger Nathan,7 Cees-Jan De Hoog,8 Anders Koch,9 Lone Nukaaraq Møller,10* Claus Andreasen,11 Morten Meldgaard,12 Richard Villems,5 Christian Bendixen,4 Eske Willerslev1{dagger}

The Paleo-Eskimo Saqqaq and Independence I cultures, documented from archaeological remains in Northern Canada and Greenland, represent the earliest human expansion into the New World's northern extremes. However, their origin and genetic relationship to later cultures are unknown. We sequenced a mitochondrial genome from a Paleo-Eskimo human by using 3400-to 4500-year-old frozen hair excavated from an early Greenlandic Saqqaq settlement. The sample is distinct from modern Native Americans and Neo-Eskimos, falling within haplogroup D2a1, a group previously observed among modern Aleuts and Siberian Sireniki Yuit. This result suggests that the earliest migrants into the New World's northern extremes derived from populations in the Bering Sea area and were not directly related to Native Americans or the later Neo-Eskimos that replaced them.

1 Center for Ancient Genetics, Department of Biology, Universitetsparken 15, DK-2100 Copenhagen, Denmark.
2 Leverhulme Centre for Human Evolutionary Studies, University of Cambridge, Cambridge CB2 1QH, UK.
3 SILA (The Greenland Research Centre at the National Museum of Denmark), Frederikisholms Kanal 12, DK1220 Copenhagen, Denmark.
4 Department of Genetics and Biotechnology, Faculty of Agricultural Sciences, University of Aarhus, Post Office Box 50, DK-8830 Tjele, Denmark.
5 Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Riia 23B, Tartu, 51010 Estonia.
6 Department of Evolutionary Biology, Uppsala University, Norbyvagten 18D, 74236 Uppsala, Sweden.
7 Research Laboratory for Archaeology and the History of Art, University of Oxford, Dyson Perrins Building, South Parks Road, Oxford OX1 3QY, UK.
8 Department of Earth Sciences, University of Oxford, Parks Road, Oxford OX1 3PR, UK.
9 Department of Epidemiology Research, Statens Serum Institut, Artillerivej 5, DK-2300 Copenhagen S, Denmark.
10 Danish Centre for Experimental Parasitology, Department of Veterinary Pathobiology, Faculty of Life Sciences, University of Copenhagen, Bülowsvej 17, DK-1870 Frederiksberg C, Denmark.
11 Greenland National Museum and Archives, 3900 Nuuk, Greenland.
12 Natural History Museum of Denmark, Geologisk Museum, Øster Voldgade 5-7, DK-1350 Copenhagen, Denmark.

* Present address: Ilaqutariinnermut Pitsaaliuinermullu Aqutsisoqarfik/Family and Prevention Agency, PAARISA, Box 1160, 3900 Nuuk, Greenland.

{dagger} To whom correspondence should be addressed. E-mail: ewillerslev{at}bi.ku.dk

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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes.
A. W. Briggs, J. M. Good, R. E. Green, J. Krause, T. Maricic, U. Stenzel, C. Lalueza-Fox, P. Rudan, D. Brajkovic, Z. Kucan, et al. (2009)
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From the Cover: Deciphering the complete mitochondrial genome and phylogeny of the extinct cave bear in the Paleolithic painted cave of Chauvet.
C. Bon, N. Caudy, M. de Dieuleveult, P. Fosse, M. Philippe, F. Maksud, E. Beraud-Colomb, E. Bouzaid, R. Kefi, C. Laugier, et al. (2008)
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Response to Comment on "Whole-Genome Shotgun Sequencing of Mitochondria from Ancient Hair Shafts".
M. T. P. Gilbert, W. Miller, and S. C. Schuster (2008)
Science 322, 857b
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