TY - JOUR

T1 - Ancient human genome sequence of an extinct Palaeo-Eskimo

AU - Rasmussen, Morten

AU - Li, Yingrui

AU - Lindgreen, Stinus

AU - Pedersen, Jakob Skou

AU - Albrechtsen, Anders

AU - Moltke, Ida

AU - Metspalu, Mait

AU - Metspalu, Ene

AU - Kivisild, Toomas

AU - Gupta, Ramneek

AU - Bertalan, Marcelo

AU - Nielsen, Kasper

AU - Gilbert, Tom

AU - Wang, Yong

AU - Raghavan, Maanasa

AU - Campos, Paula

AU - Kamp, Hanne Louise Munkholm

AU - Wilson, Andrew S.

AU - Gledhill, Andrew

AU - Tridico, Silvana

AU - Bunce, Michael

AU - Lorenzen, Eline

AU - Binladen, Jonas Khalid Mohamed Awad

AU - Guo, Xiaosen

AU - Zhao, Jing

AU - Zhang, Xiuqing

AU - Zhang, Hao

AU - Li, Zhuo

AU - Chen, Minfeng

AU - Orlando, Ludovic Antoine Alexandre

AU - Kristiansen, Karsten

AU - Bak, Mads

AU - Tommerup, Niels

AU - Bendixen, Christian

AU - Pierre, Tracey L

AU - Grønnow, Bjarne

AU - Meldgaard, Morten

AU - Andreasen, Claus

AU - Fedorova, Sardana A.

AU - Osipova, Ludmila P.

AU - Higham, Thomas F. G.

AU - Ramsey, Christopher Bronk

AU - Hansen, Thomas van Overeem

AU - Nielsen, Finn Cilius

AU - Crawford, Michael H.

AU - Brunak, Søren

AU - Sicheritz-Pontén, Thomas

AU - Villems, Richard

AU - Nielsen, Rasmus

AU - Krogh, Anders

AU - Wang, Jun

AU - Willerslev, Eske

PY - 2010/2/11

Y1 - 2010/2/11

N2 - We report here the genome sequence of an ancient human. Obtained from approximately 4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20x, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.

AB - We report here the genome sequence of an ancient human. Obtained from approximately 4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20x, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.

KW - Cryopreservation

KW - Emigration and Immigration

KW - Extinction, Biological

KW - Genetics, Population

KW - Genome, Human

KW - Genomics

KW - Genotype

KW - Greenland

KW - Hair

KW - History, Ancient

KW - Humans

KW - Inuits

KW - Male

KW - Phenotype

KW - Phylogeny

KW - Polymorphism, Single Nucleotide

KW - Sequence Analysis, DNA

KW - Siberia

U2 - 10.1038/nature08835

DO - 10.1038/nature08835

M3 - Journal article

C2 - 20148029

VL - 463

SP - 757

EP - 762

JO - Nature

JF - Nature

SN - 0028-0836

IS - 7282

ER -