title: A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing.
abstract: 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.
authors.affiliation: Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. green@eva.mpg.de
authors.forename: Richard E
authors.initials: RE
authors.lastname: Green
authors.forename: Anna-Sapfo
authors.initials: AS
authors.lastname: Malaspinas
authors.forename: Johannes
authors.initials: J
authors.lastname: Krause
authors.forename: Adrian W
authors.initials: AW
authors.lastname: Briggs
authors.forename: Philip L F
authors.initials: PL
authors.lastname: Johnson
authors.forename: Caroline
authors.initials: C
authors.lastname: Uhler
authors.forename: Matthias
authors.initials: M
authors.lastname: Meyer
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Good
authors.forename: Tomislav
authors.initials: T
authors.lastname: Maricic
authors.forename: Udo
authors.initials: U
authors.lastname: Stenzel
authors.forename: Kay
authors.initials: K
authors.lastname: Prüfer
authors.forename: Michael
authors.initials: M
authors.lastname: Siebauer
authors.forename: Hernán A
authors.initials: HA
authors.lastname: Burbano
authors.forename: Michael
authors.initials: M
authors.lastname: Ronan
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Rothberg
authors.forename: Michael
authors.initials: M
authors.lastname: Egholm
authors.forename: Pavao
authors.initials: P
authors.lastname: Rudan
authors.forename: Dejana
authors.initials: D
authors.lastname: Brajković
authors.forename: Zeljko
authors.initials: Z
authors.lastname: Kućan
authors.forename: Ivan
authors.initials: I
authors.lastname: Gusić
authors.forename: Mårten
authors.initials: M
authors.lastname: Wikström
authors.forename: Liisa
authors.initials: L
authors.lastname: Laakkonen
authors.forename: Janet
authors.initials: J
authors.lastname: Kelso
authors.forename: Montgomery
authors.initials: M
authors.lastname: Slatkin
authors.forename: Svante
authors.initials: S
authors.lastname: Pääbo
mesh_terms: 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*
chemical_list: D004272:DNA, Mitochondrial; D051546:Cyclooxygenase 2; C496540:PTGS2 protein, human