A High-Coverage Genome Sequence from an Archaic Denisovan Individual

被引：1207

作者：

Meyer, Matthias ^{[1
]}

Kircher, Martin ^{[1
]}

Gansauge, Marie-Theres ^{[1
]}

Li, Heng ^{[2
]}

Racimo, Fernando ^{[1
]}

Mallick, Swapan ^{[2
,3
]}

Schraiber, Joshua G. ^{[4
]}

Jay, Flora ^{[4
]}

Pruefer, Kay ^{[1
]}

de Filippo, Cesare ^{[1
]}

Sudmant, Peter H. ^{[6
]}

Alkan, Can ^{[5
,6
]}

Fu, Qiaomei ^{[1
,7
]}

Do, Ron ^{[2
]}

Rohland, Nadin ^{[2
,3
]}

Tandon, Arti ^{[2
,3
]}

Siebauer, Michael ^{[1
]}

Green, Richard E. ^{[8
]}

Bryc, Katarzyna ^{[3
]}

Briggs, Adrian W. ^{[3
]}

Stenzel, Udo ^{[1
]}

Dabney, Jesse ^{[1
]}

Shendure, Jay ^{[6
]}

Kitzman, Jacob ^{[6
]}

Hammer, Michael F. ^{[9
]}

Shunkov, Michael V. ^{[10
]}

Derevianko, Anatoli P. ^{[10
]}

Patterson, Nick ^{[2
]}

Andres, Aida M. ^{[1
]}

Eichler, Evan E. ^{[6
,11
]}

Slatkin, Montgomery ^{[4
]}

Reich, David ^{[2
,3
]}

Kelso, Janet ^{[1
]}

Paeaebo, Svante ^{[1
]}

机构：

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

[2] Broad Inst Massachusetts Inst Technol & Harvard, Cambridge, MA 02142 USA

[3] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

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

[5] Bilkent Univ, Dept Comp Engn, TR-06800 Ankara, Turkey

[6] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

[7] Chinese Acad Sci, Inst Vertebrate Paleontol & Paleoanthropol, CAS MPS Joint Lab Human Evolut, Beijing 100044, Peoples R China

[8] Univ Calif Santa Cruz, Jack Baskin Sch Engn, Santa Cruz, CA 95064 USA

[9] Univ Arizona, Arizona Res Labs, Div Biotechnol, Tucson, AZ 85721 USA

[10] Russian Acad Sci, Siberian Branch, Inst Archaeol & Ethnog, Palaeolith Dept, Novosibirsk 630090, Russia

[11] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA

来源：

SCIENCE | 2012年 / 338卷 / 6104期

关键词：

NEANDERTHAL GENOME; PATTERNS; HISTORY; HOMININ; SIBERIA; ORIGIN; ASIA;

D O I：

10.1126/science.1224344

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：

We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30x) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that genetic diversity in these archaic hominins was extremely low. It also allows tentative dating of the specimen on the basis of "missing evolution" in its genome, detailed measurements of Denisovan and Neandertal admixture into present-day human populations, and the generation of a near-complete catalog of genetic changes that swept to high frequency in modern humans since their divergence from Denisovans.

引用

页码：222 / 226

页数：5

共 27 条

[1] A map of human genome variation from population-scale sequencing
Altshuler, David
Durbin, Richard M.
Abecasis, Goncalo R.
Bentley, David R.
Chakravarti, Aravinda
Clark, Andrew G.
Collins, Francis S.
De la Vega, Francisco M.
Donnelly, Peter
Egholm, Michael
Flicek, Paul
Gabriel, Stacey B.
Gibbs, Richard A.
Knoppers, Bartha M.
Lander, Eric S.
Lehrach, Hans
Mardis, Elaine R.
McVean, Gil A.
Nickerson, DebbieA.
Peltonen, Leena
Schafer, Alan J.
Sherry, Stephen T.
Wang, Jun
Wilson, Richard K.
Gibbs, Richard A.
Deiros, David
Metzker, Mike
Muzny, Donna
Reid, Jeff
Wheeler, David
Wang, Jun
Li, Jingxiang
Jian, Min
Li, Guoqing
Li, Ruiqiang
Liang, Huiqing
Tian, Geng
Wang, Bo
Wang, Jian
Wang, Wei
Yang, Huanming
Zhang, Xiuqing
Zheng, Huisong
Lander, Eric S.
Altshuler, David L.
Ambrogio, Lauren
Bloom, Toby
Cibulskis, Kristian
Fennell, Tim J.
Gabriel, Stacey B.
[J]. NATURE, 2010, 467 (7319) : 1061 - 1073
[2] Patterns of damage in genomic DNA sequences from a Neandertal
Briggs, Adrian W.
Stenzel, Udo
Johnson, Philip L. F.
Green, Richard E.
Kelso, Janet
Pruefer, Kay
Meyer, Matthias
Krause, Johannes
Ronan, Michael T.
Lachmann, Michael
Paeaebo, Svante
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (37) : 14616 - 14621
[3] Targeted Investigation of the Neandertal Genome by Array-Based Sequence Capture
Burbano, Hernan A.
Hodges, Emily
Green, Richard E.
Briggs, Adrian W.
Krause, Johannes
Meyer, Matthias
Good, Jeffrey M.
Maricic, Tomislav
Johnson, Philip L. F.
Xuan, Zhenyu
Rooks, Michelle
Bhattacharjee, Arindam
Brizuela, Leonardo
Albert, Frank W.
de la Rasilla, Marco
Fortea, Javier
Rosas, Antonio
Lachmann, Michael
Hannon, Gregory J.
Paeaebo, Svante
[J]. SCIENCE, 2010, 328 (5979) : 723 - 725
[4] Predicting homo pigmentation phenotype through genomic data: From neanderthal to James Watson
Cerqueira, Caio C. S.
Paixao-Cortes, Vanessa R.
Zambra, Francis M. B.
Salzano, Francisco M.
Huenemeier, Tabita
Bortolini, Maria-Catira
[J]. AMERICAN JOURNAL OF HUMAN BIOLOGY, 2012, 24 (05) : 705 - 709
[5] Variation in genome-wide mutation rates within and between human families
Conrad, Donald F.
Keebler, Jonathan E. M.
DePristo, Mark A.
Lindsay, Sarah J.
Zhang, Yujun
Casals, Ferran
Idaghdour, Youssef
Hartl, Chris L.
Torroja, Carlos
Garimella, Kiran V.
Zilversmit, Martine
Cartwright, Reed
Rouleau, Guy A.
Daly, Mark
Stone, Eric A.
Hurles, Matthew E.
Awadalla, Philip
[J]. NATURE GENETICS, 2011, 43 (07) : 712 - U137
[6] Coyne J.A., 1989, P180
[7] Strong reproductive isolation between humans and Neanderthals inferred from observed patterns of introgression
Currat, Mathias
Excoffier, Laurent
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2011, 108 (37) : 15129 - 15134
[8] A Humanized Version of Foxp2 Affects Cortico-Basal Ganglia Circuits in Mice
Enard, Wolfgang
Gehre, Sabine
Hammerschmidt, Kurt
Hoelter, Sabine M.
Blass, Torsten
Somel, Mehmet
Brueckner, Martina K.
Schreiweis, Christiane
Winter, Christine
Sohr, Reinhard
Becker, Lore
Wiebe, Victor
Nickel, Birgit
Giger, Thomas
Mueller, Uwe
Groszer, Matthias
Adler, Thure
Aguilar, Antonio
Bolle, Ines
Calzada-Wack, Julia
Dalke, Claudia
Ehrhardt, Nicole
Favor, Jack
Fuchs, Helmut
Gailus-Durner, Valerie
Hans, Wolfgang
Hoelzlwimmer, Gabriele
Javaheri, Anahita
Kalaydjiev, Svetoslav
Kallnik, Magdalena
Kling, Eva
Kunder, Sandra
Mossbrugger, Ilona
Naton, Beatrix
Racz, Ildiko
Rathkolb, Birgit
Rozman, Jan
Schrewe, Anja
Busch, Dirk H.
Graw, Jochen
Ivandic, Boris
Klingenspor, Martin
Klopstock, Thomas
Ollert, Markus
Quintanilla-Martinez, Leticia
Schulz, Holger
Wolf, Eckhard
Wurst, Wolfgang
Zimmer, Andreas
Fisher, Simon E.
[J]. CELL, 2009, 137 (05) : 961 - 971
[9] Who Were the Denisovans?
Gibbons, Ann
[J]. SCIENCE, 2011, 333 (6046) : 1084 - 1087
[10] The genomic record of humankind's evolutionary roots
Goodman, M
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) : 31 - 39

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