The genetic prehistory of the New World Arctic

Maanasa Raghavan, Michael DeGiorgio, Anders Albrechtsen, Ida Moltke, Pontus Skoglund, Thorfinn S. Korneliussen, Bjarne Grønnow, Martin Appelt, Hans Christian Gulløv, T. Max Friesen, William Fitzhugh, Helena Malmström, Simon Rasmussen, Jesper Olsen, Linea Melchior, Benjamin T. Fuller, Simon M. Fahrni, Thomas Stafford Jr., Vaughan Grimes, M. A. Priscilla RenoufJerome Cybulski, Niels Lynnerup, Marta Mirazon Lahr, Kate Britton, Rick Knecht, Jette Arneborg, Mait Metspalu, Omar E. Cornejo, Anna-Sapfo Malaspinas, Yong Wang, Morten Rasmussen, Vibha Raghavan, Thomas V. O. Hansen, Elza Khusnutdinova, Tracey Pierre, Kirill Dneprovsky, Claus Andreasen, Hans Lange, M. Geoffrey Hayes, Joan Coltrain, Victor A. Spitsyn, Anders Götherström, Ludovic Orlando, Toomas Kivisild, Richard Villems, Michael H. Crawford, Finn C. Nielsen, Jørgen Dissing, Jan Heinemeier, Morten Meldgaard, Carlos Bustamante, Dennis H. O’Rourke, Mattias Jakobsson, M. Thomas P. Gilbert, Rasmus Nielsen, Eske Willerslev

Research output: Contribution to journalArticlepeer-review

237 Citations (Scopus)

Abstract

The New World Arctic, the last region of the Americas to be populated by humans, has a relatively well-researched archaeology, but an understanding of its genetic history is lacking. We present genome-wide sequence data from ancient and present-day humans from Greenland, Arctic Canada, Alaska, Aleutian Islands, and Siberia. We show that Paleo-Eskimos (~3000 BCE to 1300 CE) represent a migration pulse into the Americas independent of both Native American and Inuit expansions. Furthermore, the genetic continuity characterizing the Paleo-Eskimo period was interrupted by the arrival of a new population, representing the ancestors of present-day Inuit, with evidence of past gene flow between these lineages. Despite periodic abandonment of major Arctic regions, a single Paleo-Eskimo metapopulation likely survived in near-isolation for more than 4000 years, only to vanish around 700 years ago.
Original languageEnglish
Pages (from-to)1020-1029
Number of pages10
JournalScience
Volume345
Issue number6200
DOIs
Publication statusPublished - 29 Aug 2014

Bibliographical note

We thank the Danish National Sequencing Centre, T. B. Brand,
and P. S. Olsen for technical assistance; anonymous donors for
providing DNA samples; A. Helgason and S. Sunna Ebenesersdóttir
from deCODE for their input on mtDNA phylogenies; A, Di Rienzo
for access to genotyping data from Siberian populations;
J. R. Southon (B.T.F.), Kitikmeot Heritage Society (T.M.F.), Polar
Continental Shelf Project (T.M.F.), Inuit Heritage Trust (D.H.O’R.,
Je.C., Jo.C., M.G.H.), Kivalliq Inuit Association (D.H.O’R., Jo.C.,
M.G.H.), communities of Coral Harbor and Chesterfield Inlet
(D.H.O’R., Jo.C., M.G.H.), Canadian Museum of History (D.H.O’R.,
Je.C., Jo.C., M.G.H.), D. Morrison (D.H.O’R., Je.C., Jo.C., M.G.H.),
L. Wood (D.H.O’R., Jo.C., M.G.H.), J. Young (D.H.O’R., Je.C., Jo.C.,
M.G.H.), D. Stenton (D.H.O’R., Je.C., Jo.C., M.G.H.), S. Girling-Christie
(Je.C.), Commission for Scientific Research in Greenland (J.A.),
Greenland National Museum and Archives (J.A.), Parks Canada
(M.A.P.R., V.G.), Memorial University (V.G., M.A.P.R.), Government
of Newfoundland and Labrador (V.G.), The Rooms Inc. (V.G.),
Innu Nation (V.G.), Nunatsiavut Government (V.G.), Miawpukek
First Nation (V.G.), D. Lavers (V.G.), R. Anstey (V.G.), W. Jones and
Qanirtuuq Inc., Quinhagak, Alaska (K.B. and R.K.), the residents
of Quinhagak, Alaska (K.B. and R.K.), Nunivak Island Mekoryuk
Alaska Corporation, Mekoryuk, Alaska (K.B. and R.K.), and the
Carnegie Trust for the Universities of Scotland (K.B. and R.K.).
Supported by the Danish National Research Foundation (E.W.)
Lundbeck Foundation (E.W., N.L.), Villum Foundation (A.A.), Swiss
National Science Foundation Fellowship (A.S.-M, PBSKP3_143259),
The Rock Foundation (B.G., M.A.), Social Sciences and Humanities
Research Council of Canada (T.M.F.), National Science Foundation
Office of Polar Programs (D,H,O’R.: OPP-9974623 and OPP-0327641;
Jo.C.: OPP-9726126 and OPP-9977931; M.G.H.: OPP-9813044),
Northern Worlds Initiative (H.C.G.), Augustinus Foundation (H.C.G.),
the Danish Council for Independent Research (I.M.), National Science
Foundation (J.A.: International Polar Year grant 0732327; M.H.C.,
OPP-9905090 and OPP-0327676), Wenner-Gren Foundation for
Anthropological Research (M.G.H.: no. 6364), Natural Sciences and
Engineering Research Council of Canada Postgraduate Fellowship
(M.G.H.), University of Utah Graduate Research Fellowship
(M.G.H.), EU Marie Curie FP7 Initial Training Network Grant
(Ma.R.: FP7-ITN-215362-2), Arts and Humanities Research Council
(K.B. and R.K.: AH/K006029/1), Memorial University Faculty of
Arts Research Initiative (V.G.), Memorial University Office of
Research Grant (V.G.), Social Sciences and Humanities Research
Council of Canada (M.A.P.R.), EU European Regional Development
Fund through the Centre of Excellence in Genomics to Estonian
Biocentre (M.M. and R.V.), Estonian Institutional Research
(M.M. and R.V.: grant IUT24-1), and Estonian Science Foundation
(M.M. and R.V.: grant 8973). Informed consent was obtained for
the genome sequencing of the modern individuals, with ethical
approval from The National Committee on Health Research Ethics,
Denmark (H-3-2012-FSP21). Sequence data for the ancient
samples are available for download through European Nucleotide
Archive (ENA) accession no. PRJEB6516, and for the Illumina
genotype data through Gene Expression Omnibus (GEO) series
accession no. GSE59546 and at www.ebc.ee/free_data. Alignment
files (BAMs) for the ancient genomes sequenced in this study
are available at www.cbs.dtu.dk/suppl/arctic. The data for the
modern populations are available for demographic research
under data access agreement with E.W. The Thule samples from
Silumiut, Kamarvik, and Sadlermiut were made available by
D.H.O’R. under agreement with the Canadian Museum of
Civilization and local communities who provided research access
to the samples. C.B. is on the advisory board of a project at
23andMe and on the scientific advisory boards of Personalis
Inc.; InVitae; Etalon Inc.; and Ancestry.com. The authors declare
no competing financial interests

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