Initial sequence of the chimpanzee genome and comparison with the human genome

被引:1183
作者
Mikkelsen, TS
Hillier, LW
Eichler, EE
Zody, MC
Jaffe, DB
Yang, SP
Enard, W
Hellmann, I
Lindblad-Toh, K
Altheide, TK
Archidiacono, N
Bork, P
Butler, J
Chang, JL
Cheng, Z
Chinwalla, AT
deJong, P
Delehaunty, KD
Fronick, CC
Fulton, LL
Gilad, Y
Glusman, G
Gnerre, S
Graves, TA
Hayakawa, T
Hayden, KE
Huang, XQ
Ji, HK
Kent, WJ
King, MC
Kulbokas, EJ
Lee, MK
Liu, G
Lopez-Otin, C
Makova, KD
Man, O
Mardis, ER
Mauceli, E
Miner, TL
Nash, WE
Nelson, JO
Pääbo, S
Patterson, NJ
Pohl, CS
Pollard, KS
Prüfer, K
Puente, XS
Reich, D
Rocchi, M
Rosenbloom, K
机构
[1] Univ Washington, Sch Med, Seattle, WA 98195 USA
[2] MIT, Broad Inst, Cambridge, MA 02141 USA
[3] Harvard Univ, Broad Inst, Cambridge, MA 02141 USA
[4] MIT, Div Hlth Sci & Technol, Cambridge, MA 02139 USA
[5] Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA
[6] Max Planck Inst Evolutionary Anthropol, D-04103 Leipzig, Germany
[7] Univ Calif San Diego, La Jolla, CA 92093 USA
[8] Univ Bari, Dept Genet & Microbiol, I-70126 Bari, Italy
[9] European Mol Biol Lab, D-69117 Heidelberg, Germany
[10] Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany
[11] Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA
[12] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA
[13] Inst Syst Biol, Seattle, WA 98103 USA
[14] Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA
[15] Iowa State Univ, Dept Comp Sci, Ames, IA 50011 USA
[16] Harvard Univ, Dept Stat, Cambridge, MA 02138 USA
[17] Univ Calif Santa Cruz, Ctr Biomol Sci & Engn, Santa Cruz, CA 95064 USA
[18] Univ Oviedo, Inst Univ Oncol Principado Asturias, Dept Bioquim & Biol Mol, E-33006 Oviedo, Spain
[19] Penn State Univ, Ctr Comparat Genom & Bioinformat, University Pk, PA 16802 USA
[20] Penn State Univ, Dept Biol, University Pk, PA 16802 USA
[21] Weizmann Inst Sci, Dept Biol Struct, IL-76100 Rehovot, Israel
[22] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA
[23] Harvard Univ, Dept Anthropol, Cambridge, MA 02138 USA
[24] Harvard Univ, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA
[25] Harvard Univ, Sch Med, Dept Syst Biol, Boston, MA 02115 USA
[26] Whitehead Inst Biomed Res, Cambridge, MA 02142 USA
[27] MIT, Dept Biol, Cambridge, MA 02139 USA
基金
美国国家科学基金会; 美国国家卫生研究院;
关键词
D O I
10.1038/nature04072
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
Here we present a draft genome sequence of the common chimpanzee ( Pan troglodytes). Through comparison with the human genome, we have generated a largely complete catalogue of the genetic differences that have accumulated since the human and chimpanzee species diverged from our common ancestor, constituting approximately thirty-five million single-nucleotide changes, five million insertion/deletion events, and various chromosomal rearrangements. We use this catalogue to explore the magnitude and regional variation of mutational forces shaping these two genomes, and the strength of positive and negative selection acting on their genes. In particular, we find that the patterns of evolution in human and chimpanzee protein-coding genes are highly correlated and dominated by the fixation of neutral and slightly deleterious alleles. We also use the chimpanzee genome as an outgroup to investigate human population genetics and identify signatures of selective sweeps in recent human evolution.
引用
收藏
页码:69 / 87
页数:19
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