Targeted Investigation of the Neandertal Genome by Array-Based Sequence Capture

被引：192

作者：

Burbano, Hernan A. ^{[1
]}

Hodges, Emily ^{[2
,3
]}

Green, Richard E. ^{[1
]}

Briggs, Adrian W. ^{[1
]}

Krause, Johannes ^{[1
]}

Meyer, Matthias ^{[1
]}

Good, Jeffrey M. ^{[1
,4
]}

Maricic, Tomislav ^{[1
]}

Johnson, Philip L. F. ^{[5
]}

Xuan, Zhenyu ^{[2
]}

Rooks, Michelle ^{[2
,3
]}

Bhattacharjee, Arindam ^{[6
]}

Brizuela, Leonardo ^{[6
]}

Albert, Frank W. ^{[1
]}

de la Rasilla, Marco ^{[7
]}

Fortea, Javier ^{[7
]}

Rosas, Antonio ^{[8
]}

Lachmann, Michael ^{[1
]}

Hannon, Gregory J. ^{[2
,3
]}

Paeaebo, Svante ^{[1
]}

机构：

[1] Max Planck Inst Evolutionary Anthropol, D-04103 Leipzig, Germany

[2] Cold Spring Harbor Lab, Watson Sch Biol Sci, Cold Spring Harbor, NY 11724 USA

[3] Cold Spring Harbor Lab, Howard Hughes Med Inst, Cold Spring Harbor, NY 11724 USA

[4] Univ Montana, Div Biol Sci, Missoula, MT 59812 USA

[5] Emory Univ, Dept Biol, Atlanta, GA 30322 USA

[6] Agilent Technol, Life Sci Grp, Santa Clara, CA 95051 USA

[7] Univ Oviedo, Dept Hist, Area Prehist, Oviedo, Spain

[8] CSIC, Museo Nacl Ciencias Nat, Dept Paleobiol, E-28006 Madrid, Spain

来源：

SCIENCE | 2010年 / 328卷 / 5979期

关键词：

SELECTION; FOXP2; EVOLUTION; SPEECH; HUMANS;

D O I：

10.1126/science.1188046

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

It is now possible to perform whole-genome shotgun sequencing as well as capture of specific genomic regions for extinct organisms. However, targeted resequencing of large parts of nuclear genomes has yet to be demonstrated for ancient DNA. Here we show that hybridization capture on microarrays can successfully recover more than a megabase of target regions from Neandertal DNA even in the presence of similar to 99.8% microbial DNA. Using this approach, we have sequenced similar to 14,000 protein-coding positions inferred to have changed on the human lineage since the last common ancestor shared with chimpanzees. By generating the sequence of one Neandertal and 50 present-day humans at these positions, we have identified 88 amino acid substitutions that have become fixed in humans since our divergence from the Neandertals.

引用

页码：723 / 725

页数：3

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