A complete neandertal mitochondrial genome sequence determined by high-throughput Sequencing

被引:379
作者
Green, Richard E. [1 ]
Malaspinas, Anna-Sapfo [2 ]
Krause, Johannes [1 ]
Briggs, Adrian W. [1 ]
Johnson, Philip L. F. [3 ]
Uhler, Caroline [4 ]
Meyer, Matthias [1 ]
Good, Jeffrey M. [1 ]
Maricic, Tomislav [1 ]
Stenzel, Udo [1 ]
Pruefer, Kay [1 ]
Siebauer, Michael [1 ]
Burbano, Hernan A. [1 ]
Ronan, Michael [5 ]
Rothberg, Jonathan M. [6 ]
Egholm, Michael [5 ]
Rudan, Pavao
Brajkovic, Dejana [7 ]
Kucan, Zeljko
Gusic, Ivan
Wikstrom, Marten [8 ]
Laakkonen, Liisa [9 ]
Kelso, Janet [1 ]
Slatkin, Montgomery [2 ]
Paeaebo, Svante [1 ]
机构
[1] Max Planck Inst Evolutionary Anthropol, D-04103 Leipzig, Germany
[2] Univ Calif Berkeley, Dept Integrat Biol, Berkeley, CA 94720 USA
[3] Univ Calif Berkeley, Biophys Grad Grp, Berkeley, CA 94720 USA
[4] Univ Calif Berkeley, Dept Stat, Berkeley, CA 94720 USA
[5] 454 Life Sci, Branford, CT 06405 USA
[6] Rothberg Inst Childhood Dis, Guilford, CT 06437 USA
[7] Croatian Acad Sci & Arts, Inst Quaternary Paleontol & Geol, HR-10000 Zagreb, Croatia
[8] Univ Helsinki, Inst Biotechnol, Program Struct Biol & Biophys, Helsinki Bioenergent Grp, FIN-00014 Helsinki, Finland
[9] Univ Helsinki, Fac Biosci, Dept Biol & Environm Sci, Div Biochem, FIN-00014 Helsinki, Finland
关键词
D O I
10.1016/j.cell.2008.06.021
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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 similar to 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.
引用
收藏
页码:416 / 426
页数:11
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