（封面圖片：Green等科學(xué)家首次發(fā)表了一個尼安德特人線粒體基因組的完整測序結(jié)果,。圖片提供：Steven W. Marcus）
盡管科學(xué)家相信尼安德特人是最接近現(xiàn)代人類的原始人種,，但是關(guān)于他們與現(xiàn)代人類之間的精確關(guān)系卻一直存在爭論,。自從1997年尼安德特人分子基因數(shù)據(jù)首次公布以來,，多種分析結(jié)果顯示其線粒體DNA與現(xiàn)代人存在差異,，由于線粒體DNA基因組是母系遺傳,，并不會受到重組的影響,，因此這些結(jié)果意味著尼安德特人對現(xiàn)代人類的線粒體DNA基因庫并沒有貢獻,。
最近高通量454測序技術(shù)被廣泛應(yīng)用于分析古代DNA樣本,，這些方法為復(fù)原古代DNA提供了可能。454測序技術(shù)的最大優(yōu)勢在于能獲得大量的測序數(shù)據(jù),，從而能應(yīng)用于基因組尺度的古代DNA測序項目,。454測序技術(shù)特別適合于線粒體基因組,，因為其數(shù)據(jù)較少，而且在細胞中廣泛存在,。在2008年8月8日出版的《細胞》（Cell）上,，來自德國、美國,、克羅地亞和芬蘭的科學(xué)家發(fā)表了他們的最新研究結(jié)果,，通過454測序技術(shù)，科學(xué)家得到了一個尼安德特個體的完整線粒體DNA基因組序列,。
通過對1980年從克羅地亞的Vindija Cave出土的尼安德特人骨樣本的測序,，科學(xué)家從0.3克骨骼中得到了4.8Gb的DNA數(shù)據(jù)，并從中獲得了8341線粒體DNA序列,。這一尼安德特人個體大約生活在距今38000年前,。在此之前，盡管科學(xué)家曾經(jīng)得到過該骨骼樣本的線粒體DNA的HVRI序列結(jié)果,，但是獲得完整的線粒體DNA序列這還是首次,，這一結(jié)果將有助于科學(xué)家研究現(xiàn)代人類和尼安德特人線粒體DNA之間在進化上的關(guān)系。
文章中科學(xué)家還表示,，此次獲得的完整尼安德特人線粒體DNA序列進一步確認了之前對于尼安德特人的推測,。首先，結(jié)果確認了其線粒體DNA與現(xiàn)代人的差別,。其次,，研究人員發(fā)現(xiàn)尼安德特人線粒體DNA大約在660000年之前與現(xiàn)代人類線粒體DNA世系發(fā)生進化上的分離。（生物谷Bioon.com）
生物谷推薦原始出處：
Cell,，Vol 134, 416-426, 08 August 2008,，Richard E. Green, Svante Pääbo
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
1 Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany
2 Department of Integrative Biology, University of California, Berkeley, CA 94720, USA
3 Biophysics Graduate Group, University of California, Berkeley, CA 94720, USA
4 Department of Statistics, University of California, Berkeley, CA 94720, USA
5 454 Life Sciences, Branford, CT 06405, USA
6 The Rothberg Institute for Childhood Diseases, Guilford, CT 06437, USA
7 Croatian Academy of Sciences and Arts, Zrinski trg 11, HR-10000 Zagreb, Croatia
8 Croatian Academy of Sciences and Arts, Institute for Quaternary Paleontology and Geology, Ante Kovačića 5, HR-10000 Zagreb, Croatia
9 Helsinki Bioenergentics Group, Program for Structural Biology and Biophysics, Institute of Biotechnology, FIN-00014 Helsinki, Finland
10 Division of Biochemistry, Department of Biological and Environmental Sciences, Faculty of Biosciences, University of Helsinki, FIN-00014 Helsinki, Finland
Summary
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.
