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.
Rasmussen
Morten
M
Centre for GeoGenetics, Natural History Museum of Denmark and Department of Biology, University of Copenhagen, Universitetsparken 15, DK-2100 Copenhagen, Denmark.
Li
Yingrui
Y
Lindgreen
Stinus
S
Pedersen
Jakob Skou
JS
Albrechtsen
Anders
A
Moltke
Ida
I
Metspalu
Mait
M
Metspalu
Ene
E
Kivisild
Toomas
T
Gupta
Ramneek
R
Bertalan
Marcelo
M
Nielsen
Kasper
K
Gilbert
M Thomas P
MT
Wang
Yong
Y
Raghavan
Maanasa
M
Campos
Paula F
PF
Kamp
Hanne Munkholm
HM
Wilson
Andrew S
AS
Gledhill
Andrew
A
Tridico
Silvana
S
Bunce
Michael
M
Lorenzen
Eline D
ED
Binladen
Jonas
J
Guo
Xiaosen
X
Zhao
Jing
J
Zhang
Xiuqing
X
Zhang
Hao
H
Li
Zhuo
Z
Chen
Minfeng
M
Orlando
Ludovic
L
Kristiansen
Karsten
K
Bak
Mads
M
Tommerup
Niels
N
Bendixen
Christian
C
Pierre
Tracey L
TL
Grønnow
Bjarne
B
Meldgaard
Morten
M
Andreasen
Claus
C
Fedorova
Sardana A
SA
Osipova
Ludmila P
LP
Higham
Thomas F G
TF
Ramsey
Christopher Bronk
CB
Hansen
Thomas V O
TV
Nielsen
Finn C
FC
Crawford
Michael H
MH
Brunak
Søren
S
Sicheritz-Pontén
Thomas
T
Villems
Richard
R
Nielsen
Rasmus
R
Krogh
Anders
A
Wang
Jun
J
Willerslev
Eske
E
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