A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing.
A complete mitochondrial (mt) genome sequence was reconstructed from a 38,000 year-old Neandertal individual with 8341 mtDNA sequences identified among 4.8 Gb of DNA generated from approximately 0.3 g of bone. Analysis of the assembled sequence unequivocally establishes that the Neandertal mtDNA falls outside the variation of extant human mtDNAs, and allows an estimate of the divergence date between the two mtDNA lineages of 660,000 +/- 140,000 years. Of the 13 proteins encoded in the mtDNA, subunit 2 of cytochrome c oxidase of the mitochondrial electron transport chain has experienced the largest number of amino acid substitutions in human ancestors since the separation from Neandertals. There is evidence that purifying selection in the Neandertal mtDNA was reduced compared with other primate lineages, suggesting that the effective population size of Neandertals was small.
Green
Richard E
RE
Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. green@eva.mpg.de
Malaspinas
Anna-Sapfo
AS
Krause
Johannes
J
Briggs
Adrian W
AW
Johnson
Philip L F
PL
Uhler
Caroline
C
Meyer
Matthias
M
Good
Jeffrey M
JM
Maricic
Tomislav
T
Stenzel
Udo
U
Prüfer
Kay
K
Siebauer
Michael
M
Burbano
Hernán A
HA
Ronan
Michael
M
Rothberg
Jonathan M
JM
Egholm
Michael
M
Rudan
Pavao
P
Brajković
Dejana
D
Kućan
Zeljko
Z
Gusić
Ivan
I
Wikström
Mårten
M
Laakkonen
Liisa
L
Kelso
Janet
J
Slatkin
Montgomery
M
Pääbo
Svante
S
D000818:Animals; D001483:Base Sequence; D001842:Bone and Bones / Q000378:metabolism; D017523:Croatia; D051546:Cyclooxygenase 2 / Q000737:chemistry; D004272:DNA, Mitochondrial / Q000235:genetics; D019143:Evolution, Molecular; D005580:Fossils; D054629:Genome, Mitochondrial; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA / Q000379:methods*
D004272:DNA, Mitochondrial; D051546:Cyclooxygenase 2; C496540:PTGS2 protein, human