Analysis of the new sequence confirms that the mitochondria of Neandertal's falls outside the variation found in humans today, offering no evidence of admixture between the two lineages although it remains a possibility. It also shows that the last common ancestor of Neandertals and humans lived about 660,000 years ago, give or take 140,000 years.Cell, Vol 134, 416-426, 08 August 2008
A Complete Neandertal Mitochondrial Genome Sequence Determined by High-Throughput Sequencing
Richard E. Green,1, Anna-Sapfo Malaspinas,2 Johannes Krause,1 Adrian W. Briggs,1 Philip L.F. Johnson,3 Caroline Uhler,4 Matthias Meyer,1 Jeffrey M. Good,1 Tomislav Maricic,1 Udo Stenzel,1 Kay Prüfer,1 Michael Siebauer,1 Hernán A. Burbano,1 Michael Ronan,5 Jonathan M. Rothberg,6 Michael Egholm,5 Pavao Rudan,7 Dejana Brajković,8 Željko Kućan,7 Ivan Gušić,7 Mårten Wikström,9 Liisa Laakkonen,10 Janet Kelso,1 Montgomery Slatkin,2 and Svante Pääbo1
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 ∼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.