Ancient human genome sequence of an extinct Palaeo-Eskimo

Morten Rasmussen; Yingrui Li; Stinus Lindgreen; Jakob Skou Pedersen; Anders Albrechtsen; Ida Moltke; Mait Metspalu; Ene Metspalu; Toomas Kivisild; Ramneek Gupta; Marcelo Bertalan; Kasper Nielsen; Tom Gilbert; Yong Wang; Maanasa Raghavan; Paula Campos; Hanne Louise Munkholm Kamp; Andrew S. Wilson; Andrew Gledhill; Silvana Tridico; Michael Bunce; Eline Lorenzen; Jonas Khalid Mohamed Awad Binladen; Xiaosen Guo; Jing Zhao; Xiuqing Zhang; Hao Zhang; Zhuo Li; Minfeng Chen; Ludovic Antoine Alexandre Orlando; Karsten Kristiansen; Mads Bak; Niels Tommerup; Christian Bendixen; Tracey L Pierre; Bjarne Grønnow; Morten Meldgaard; Claus Andreasen; Sardana A. Fedorova; Ludmila P. Osipova; Thomas F. G. Higham; Christopher Bronk Ramsey; Thomas van Overeem Hansen; Finn Cilius Nielsen; Michael H. Crawford; Søren Brunak; Thomas Sicheritz-Pontén; Richard Villems; Rasmus Nielsen; Anders Krogh; Jun Wang; Eske Willerslev

doi:10.1038/nature08835

Ancient human genome sequence of an extinct Palaeo-Eskimo

Morten Rasmussen, Yingrui Li, Stinus Lindgreen, Jakob Skou Pedersen, Anders Albrechtsen, Ida Moltke, Mait Metspalu, Ene Metspalu, Toomas Kivisild, Ramneek Gupta, Marcelo Bertalan, Kasper Nielsen, Tom Gilbert, Yong Wang, Maanasa Raghavan, Paula Campos, Hanne Louise Munkholm Kamp, Andrew S. Wilson, Andrew Gledhill, Silvana TridicoMichael Bunce, Eline Lorenzen, Jonas Khalid Mohamed Awad Binladen, Xiaosen Guo, Jing Zhao, Xiuqing Zhang, Hao Zhang, Zhuo Li, Minfeng Chen, Ludovic Antoine Alexandre Orlando, Karsten Kristiansen, Mads Bak, Niels Tommerup, Christian Bendixen, Tracey L Pierre, Bjarne Grønnow, Morten Meldgaard, Claus Andreasen, Sardana A. Fedorova, Ludmila P. Osipova, Thomas F. G. Higham, Christopher Bronk Ramsey, Thomas van Overeem Hansen, Finn Cilius Nielsen, Michael H. Crawford, Søren Brunak, Thomas Sicheritz-Pontén, Richard Villems, Rasmus Nielsen, Anders Krogh, Jun Wang, Eske Willerslev

485 Citations (Scopus)

Abstract

We report here the genome sequence of an ancient human. Obtained from 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 20Ã-, 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.

Original language	English
Journal	Nature
Volume	463
Issue number	7282
Pages (from-to)	757-762
Number of pages	6
ISSN	0028-0836
DOIs	https://doi.org/10.1038/nature08835
Publication status	Published - 11 Feb 2010

Keywords

Cryopreservation
Emigration and Immigration
Extinction, Biological
Genetics, Population
Genome, Human
Genomics
Genotype
Greenland
Hair
History, Ancient
Humans
Inuits
Male
Phenotype
Phylogeny
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Siberia

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J. S., Albrechtsen, A., Moltke, I., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., Bertalan, M., Nielsen, K., Gilbert, T., Wang, Y., Raghavan, M., Campos, P., Kamp, H. L. M., Wilson, A. S., Gledhill, A., ... Willerslev, E. (2010). Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature, 463(7282), 757-762. https://doi.org/10.1038/nature08835

Rasmussen, M, Li, Y, Lindgreen, S, Pedersen, JS, Albrechtsen, A , Moltke, I, Metspalu, M, Metspalu, E, Kivisild, T, Gupta, R, Bertalan, M, Nielsen, K, Gilbert, T, Wang, Y, Raghavan, M, Campos, P, Kamp, HLM, Wilson, AS, Gledhill, A, Tridico, S, Bunce, M, Lorenzen, E, Binladen, JKMA, Guo, X, Zhao, J, Zhang, X, Zhang, H, Li, Z, Chen, M, Orlando, LAA, Kristiansen, K , Bak, M , Tommerup, N, Bendixen, C, Pierre, TL, Grønnow, B, Meldgaard, M, Andreasen, C, Fedorova, SA, Osipova, LP, Higham, TFG, Ramsey, CB, Hansen, TVO , Nielsen, FC, Crawford, MH, Brunak, S, Sicheritz-Pontén, T, Villems, R, Nielsen, R , Krogh, A, Wang, J & Willerslev, E 2010, 'Ancient human genome sequence of an extinct Palaeo-Eskimo', Nature, vol. 463, no. 7282, pp. 757-762. https://doi.org/10.1038/nature08835

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title = "Ancient human genome sequence of an extinct Palaeo-Eskimo",

abstract = "We report here the genome sequence of an ancient human. Obtained from 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 20{\~A}-, 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.",

keywords = "Cryopreservation, Emigration and Immigration, Extinction, Biological, Genetics, Population, Genome, Human, Genomics, Genotype, Greenland, Hair, History, Ancient, Humans, Inuits, Male, Phenotype, Phylogeny, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Siberia",

author = "Morten Rasmussen and Yingrui Li and Stinus Lindgreen and Pedersen, {Jakob Skou} and Anders Albrechtsen and Ida Moltke and Mait Metspalu and Ene Metspalu and Toomas Kivisild and Ramneek Gupta and Marcelo Bertalan and Kasper Nielsen and Tom Gilbert and Yong Wang and Maanasa Raghavan and Paula Campos and Kamp, {Hanne Louise Munkholm} and Wilson, {Andrew S.} and Andrew Gledhill and Silvana Tridico and Michael Bunce and Eline Lorenzen and Binladen, {Jonas Khalid Mohamed Awad} and Xiaosen Guo and Jing Zhao and Xiuqing Zhang and Hao Zhang and Zhuo Li and Minfeng Chen and Orlando, {Ludovic Antoine Alexandre} and Karsten Kristiansen and Mads Bak and Niels Tommerup and Christian Bendixen and Pierre, {Tracey L} and Bjarne Gr{\o}nnow and Morten Meldgaard and Claus Andreasen and Fedorova, {Sardana A.} and Osipova, {Ludmila P.} and Higham, {Thomas F. G.} and Ramsey, {Christopher Bronk} and Hansen, {Thomas van Overeem} and Nielsen, {Finn Cilius} and Crawford, {Michael H.} and S{\o}ren Brunak and Thomas Sicheritz-Pont{\'e}n and Richard Villems and Rasmus Nielsen and Anders Krogh and Jun Wang and Eske Willerslev",

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doi = "10.1038/nature08835",

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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 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 20Ã-, 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 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 20Ã-, 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

SN - 0028-0836

VL - 463

SP - 757

EP - 762

JO - Nature

JF - Nature

IS - 7282

ER -

Ancient human genome sequence of an extinct Palaeo-Eskimo

Abstract

Keywords

UN SDGs

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