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Submitted on April 28, 2008
Accepted on May 20, 2008
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 Willerslev 1*
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, United Kingdom 3 SILA – The Greenland Research Centre at the National Museum of Denmark, Nyvestergade 10, Copenhagen K, Denmark 4 Department of Genetics and Biotechnology, Faculty of Agricultural Sciences, University of Aarhus, PO Box 50, DK-8830, Tjele, Denmark 5 Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia 6 Department of Evolutionary Biology, Uppsala University, Norbyvagten 18D, 74236 Uppsala, Sweden 7 Research Laboratory for Archaeology and the History of Art, Dyson Perrins Building, South Parks Road, Oxford, OX1 3QY, UK 8 Department of Earth Sciences, 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; Current address: Ilaqutariinnermut Pitsaaliuinermullu Aqutsisoqarfik/Family and Prevention Agency, PAARISA, Box 1160, 3900 Nuuk, Greenland 11 Greenland National Museum and Archives, 3900 Nuuk, Greenland 12 Natural History Museum of Denmark, Geologisk Museum, ster Voldgade 5-7, DK-1350 Copenhagen, Denmark
* To whom correspondence should be addressed.
Eske Willerslev , E-mail: ewillerslev{at}bi.ku.dk
The Paleo-Eskimo Saqqaq and Independence I cultures, documentedfrom archaeological remains in Northern Canada and Greenland,represent the earliest human expansion into the New Worldsnorthern extremes. However, their origin and genetic relationshipto later cultures is unknown. We sequenced a mitochondrial genomefrom a Paleo-Eskimo human, using 3400- to 4500-year-old frozenhair 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 observedamong modern Aleuts and Siberian Sireniki Yuit. This suggeststhat the earliest migrants into the New Worlds northernextremes derived from populations in the Bering Sea area, andwere neither directly related to Native Americans nor the laterNeo-Eskimos that replaced them.
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