Patterns of coding variation in the complete exomes of three Neandertals

被引：174

作者：

Castellano, Sergi ^{[1
]}

Parra, Genis ^{[1
]}

Sanchez-Quinto, Federico A. ^{[2
]}

Racimo, Fernando ^{[1
,3
]}

Kuhlwilm, Martin ^{[1
]}

Kircher, Martin ^{[1
,4
]}

Sawyer, Susanna ^{[1
]}

Fu, Qiaomei ^{[1
,5
]}

Heinze, Anja ^{[1
]}

Nickel, Birgit ^{[1
]}

Dabney, Jesse ^{[1
]}

Siebauer, Michael ^{[1
]}

White, Louise ^{[1
]}

Burbano, Hernan A. ^{[1
,6
]}

Renaud, Gabriel ^{[1
]}

Stenzel, Udo ^{[1
]}

Lalueza-Fox, Carles ^{[2
]}

de la Rasilla, Marco ^{[7
]}

Rosas, Antonio ^{[8
]}

Rudan, Pavao ^{[9
]}

Brajkovic, Dejana ^{[10
]}

Kucan, Zeljko ^{[9
]}

Gusic, Ivan ^{[10
]}

Shunkov, Michael V. ^{[11
]}

Derevianko, Anatoli P. ^{[11
]}

Viola, Bence ^{[1
,12
]}

Meyer, Matthias ^{[1
]}

Kelso, Janet ^{[1
]}

Andres, Aida M. ^{[1
]}

Paeaebo, Svante ^{[1
]}

机构：

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

[2] Univ Pompeu Fabra, Inst Evolutionary Biol, Consejo Super Invest Cient, Barcelona 08003, Spain

[3] Univ Calif Berkeley, Dept Integrat Biol, Berkeley, CA 94720 USA

[4] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[5] Chinese Acad Sci, Key Lab Vertebrate Evolut & Human Origins, Inst Vertebrate Palaeontol & Palaeoanthropol, Beijing 100044, Peoples R China

[6] Max Planck Inst Dev Biol, Dept Mol Biol, D-72076 Tubingen, Germany

[7] Univ Oviedo, Area Prehist, Dept Hist, Oviedo 33011, Spain

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

[9] Croatian Acad Sci & Arts, Anthropol Ctr, HR-10000 Zagreb, Croatia

[10] Croatian Acad Sci & Arts, Inst Quaternary Paleontol & Geol, HR-10000 Zagreb, Croatia

[11] Russian Acad Sci, Inst Archeol & Ethnog, Siberian Branch, Paleolith Dept, Novosibirsk 630090, Russia

[12] Max Planck Inst Evolutionary Anthropol, Dept Human Evolut, D-04103 Leipzig, Germany

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2014年 / 111卷 / 18期

关键词：

ancient DNA; exome capture; site frequency spectra; paleogenetics; GENOME SEQUENCE; ANCIENT DNA; SELECTION; GENES; CAVE; POPULATIONS; EVOLUTION; CAPTURE; HISTORY;

D O I：

10.1073/pnas.1405138111

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：

070301 [无机化学]; 070403 [天体物理学]; 070507 [自然资源与国土空间规划学]; 090105 [作物生产系统与生态工程];

摘要：

We present the DNA sequence of 17,367 protein-coding genes in two Neandertals from Spain and Croatia and analyze them together with the genome sequence recently determined from a Neandertal from southern Siberia. Comparisons with present-day humans from Africa, Europe, and Asia reveal that genetic diversity among Neandertals was remarkably low, and that they carried a higher proportion of amino acid-changing (nonsynonymous) alleles inferred to alter protein structure or function than present-day humans. Thus, Neandertals across Eurasia had a smaller long-term effective population than present-day humans. We also identify amino acid substitutions in Neandertals and present-day humans that may underlie phenotypic differences between the two groups. We find that genes involved in skeletal morphology have changed more in the lineage leading to Neandertals than in the ancestral lineage common to archaic and modern humans, whereas genes involved in behavior and pigmentation have changed more on the modern human lineage.

引用

页码：6666 / 6671

页数：6

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