Ancient human genome sequence of an extinct Palaeo-Eskimo.
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.
Centre for GeoGenetics, Natural History Museum of Denmark and Department of Biology, University of Copenhagen, Universitetsparken 15, DK-2100 Copenhagen, Denmark.
Morten
M
Rasmussen
Yingrui
Y
Li
Stinus
S
Lindgreen
Jakob Skou
JS
Pedersen
Anders
A
Albrechtsen
Ida
I
Moltke
Mait
M
Metspalu
Ene
E
Metspalu
Toomas
T
Kivisild
Ramneek
R
Gupta
Marcelo
M
Bertalan
Kasper
K
Nielsen
M Thomas P
MT
Gilbert
Yong
Y
Wang
Maanasa
M
Raghavan
Paula F
PF
Campos
Hanne Munkholm
HM
Kamp
Andrew S
AS
Wilson
Andrew
A
Gledhill
Silvana
S
Tridico
Michael
M
Bunce
Eline D
ED
Lorenzen
Jonas
J
Binladen
Xiaosen
X
Guo
Jing
J
Zhao
Xiuqing
X
Zhang
Hao
H
Zhang
Zhuo
Z
Li
Minfeng
M
Chen
Ludovic
L
Orlando
Karsten
K
Kristiansen
Mads
M
Bak
Niels
N
Tommerup
Christian
C
Bendixen
Tracey L
TL
Pierre
Bjarne
B
Grønnow
Morten
M
Meldgaard
Claus
C
Andreasen
Sardana A
SA
Fedorova
Ludmila P
LP
Osipova
Thomas F G
TF
Higham
Christopher Bronk
CB
Ramsey
Thomas V O
TV
Hansen
Finn C
FC
Nielsen
Michael H
MH
Crawford
Søren
S
Brunak
Thomas
T
Sicheritz-Pontén
Richard
R
Villems
Rasmus
R
Nielsen
Anders
A
Krogh
Jun
J
Wang
Eske
E
Willerslev
D015925:Cryopreservation; D004641:Emigration and Immigration / Q000266:history; D053476:Extinction, Biological; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics; D005838:Genotype; D006116:Greenland; D006197:Hair; D049690:History, Ancient; D006801:Humans; D004930:Inuit / Q000235:genetics*; D008297:Male; D010641:Phenotype; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA; D012800:Siberia / Q000208:ethnology