Abstract
The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome. We also present an initial comparative analysis of the mouse and human genomes, describing some of the insights that can be gleaned from the two sequences. We discuss topics including the analysis of the evolutionary forces shaping the size, structure and sequence of the genomes; the conservation of large-scale synteny across most of the genomes; the much lower extent of sequence orthology covering less than half of the genomes; the proportions of the genomes under selection; the number of protein-coding genes; the expansion of gene families related to reproduction and immunity; the evolution of proteins; and the identification of intraspecies polymorphism.
Original language | English |
---|---|
Pages (from-to) | 520-562 |
Number of pages | 43 |
Journal | Nature |
Volume | 420 |
Issue number | 6915 |
DOIs | |
State | Published - Dec 5 2002 |
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In: Nature, Vol. 420, No. 6915, 05.12.2002, p. 520-562.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Initial sequencing and comparative analysis of the mouse genome
AU - Waterston, Robert H.
AU - Lindblad-Toh, Kerstin
AU - Birney, Ewan
AU - Rogers, Jane
AU - Abril, Josep F.
AU - Agarwal, Pankaj
AU - Agarwala, Richa
AU - Ainscough, Rachel
AU - Alexandersson, Marina
AU - An, Peter
AU - Antonarakis, Stylianos E.
AU - Attwood, John
AU - Baertsch, Robert
AU - Bailey, Jonathon
AU - Barlow, Karen
AU - Beck, Stephan
AU - Berry, Eric
AU - Birren, Bruce
AU - Bloom, Toby
AU - Bork, Peer
AU - Botcherby, Marc
AU - Bray, Nicolas
AU - Brent, Michael R.
AU - Brown, Daniel G.
AU - Brown, Stephen D.
AU - Bult, Carol
AU - Burton, John
AU - Butler, Jonathan
AU - Campbell, Robert D.
AU - Carninci, Piero
AU - Cawley, Simon
AU - Chiaromonte, Francesca
AU - Chinwalla, Asif T.
AU - Church, Deanna M.
AU - Clamp, Michele
AU - Clee, Christopher
AU - Collins, Francis S.
AU - Cook, Lisa L.
AU - Copley, Richard R.
AU - Coulson, Alan
AU - Couronne, Olivier
AU - Cuff, James
AU - Curwen, Val
AU - Cutts, Tim
AU - Daly, Mark
AU - David, Robert
AU - Davies, Joy
AU - Delehaunty, Kimberly D.
AU - Deri, Justin
AU - Dermitzakis, Emmanouil T.
AU - Dewey, Colin
AU - Dickens, Nicholas J.
AU - Diekhans, Mark
AU - Dodge, Sheila
AU - Dubchak, Inna
AU - Dunn, Diane M.
AU - Eddy, Sean R.
AU - Elnitski, Laura
AU - Emes, Richard D.
AU - Eswara, Pallavi
AU - Eyras, Eduardo
AU - Felsenfeld, Adam
AU - Fewell, Ginger A.
AU - Flicek, Paul
AU - Foley, Karen
AU - Frankel, Wayne N.
AU - Fulton, Lucinda A.
AU - Fulton, Robert S.
AU - Furey, Terrence S.
AU - Gage, Diane
AU - Gibbs, Richard A.
AU - Glusman, Gustavo
AU - Gnerre, Sante
AU - Goldman, Nick
AU - Goodstadt, Leo
AU - Grafham, Darren
AU - Graves, Tina A.
AU - Green, Eric D.
AU - Gregory, Simon
AU - Guigó, Roderic
AU - Guyer, Mark
AU - Hardison, Ross C.
AU - Haussler, David
AU - Hayashizaki, Yoshihide
AU - LaHillier, Deana W.
AU - Hinrichs, Angela
AU - Hlavina, Wratko
AU - Holzer, Timothy
AU - Hsu, Fan
AU - Hua, Axin
AU - Hubbard, Tim
AU - Hunt, Adrienne
AU - Jackson, Ian
AU - Jaffe, David B.
AU - Johnson, L. Steven
AU - Jones, Matthew
AU - Jones, Thomas A.
AU - Joy, Ann
AU - Kamal, Michael
AU - Karlsson, Elinor K.
AU - Karolchik, Donna
AU - Kasprzyk, Arkadiusz
AU - Kawai, Jun
AU - Keibler, Evan
AU - Kells, Cristyn
AU - Kent, W. James
AU - Kirby, Andrew
AU - Kolbe, Diana L.
AU - Korf, Ian
AU - Kucherlapati, Raju S.
AU - Kulbokas, Edward J.
AU - Kulp, David
AU - Landers, Tom
AU - Leger, J. P.
AU - Leonard, Steven
AU - Letunic, Ivica
AU - Levine, Rosie
AU - Li, Jia
AU - Li, Ming
AU - Lloyd, Christine
AU - Lucas, Susan
AU - Ma, Bin
AU - Maglott, Donna R.
AU - Mardis, Elaine R.
AU - Matthews, Lucy
AU - Mauceli, Evan
AU - Mayer, John H.
AU - McCarthy, Megan
AU - McCombie, W. Richard
AU - McLaren, Stuart
AU - McLay, Kirsten
AU - McPherson, John D.
AU - Meldrim, Jim
AU - Meredith, Beverley
AU - Mesirov, Jill P.
AU - Miller, Webb
AU - Miner, Tracie L.
AU - Mongin, Emmanuel
AU - Montgomery, Kate T.
AU - Morgan, Michael
AU - Mott, Richard
AU - Mullikin, James C.
AU - Muzny, Donna M.
AU - Nash, William E.
AU - Nelson, Joanne O.
AU - Nhan, Michael N.
AU - Nicol, Robert
AU - Ning, Zemin
AU - Nusbaum, Chad
AU - O'Connor, Michael J.
AU - Okazaki, Yasushi
AU - Oliver, Karen
AU - Overton-Larty, Emma
AU - Pachter, Lior
AU - Parra, Genís
AU - Pepin, Kymberlie H.
AU - Peterson, Jane
AU - Pevzner, Pavel
AU - Plumb, Robert
AU - Pohl, Craig S.
AU - Poliakov, Alex
AU - Ponce, Tracy C.
AU - Ponting, Chris P.
AU - Potter, Simon
AU - Quail, Michael
AU - Reymond, Alexandre
AU - Roe, Bruce A.
AU - Roskin, Krishna M.
AU - Rubin, Edward M.
AU - Rust, Alistair G.
AU - Santos, Ralph
AU - Sapojnikov, Victor
AU - Schultz, Brian
AU - Schultz, Jorg
AU - Schwartz, Matthias S.
AU - Schwartz, Scott
AU - Scott, Carol
AU - Seaman, Steven
AU - Searle, Steve
AU - Sharpe, Ted
AU - Sheridan, Andrew
AU - Shownkeen, Ratna
AU - Sims, Sarah
AU - Singer, Jonathan B.
AU - Slater, Guy
AU - Smit, Arian
AU - Smith, Douglas R.
AU - Spencer, Brian
AU - Stabenau, Arne
AU - Stange-Thomann, Nicole
AU - Sugnet, Charles
AU - Suyama, Mikita
AU - Tesler, Glenn
AU - Thompson, Johanna
AU - Torrents, David
AU - Trevaskis, Evanne
AU - Tromp, John
AU - Ucla, Catherine
AU - Ureta-Vidal, Abel
AU - Vinson, Jade P.
AU - von Niederhausern, Andrew C.
AU - Wade, Claire M.
AU - Wall, Melanie
AU - Weber, Ryan J.
AU - Weiss, Robert B.
AU - Wendl, Michael C.
AU - West, Anthony P.
AU - Wetterstrand, Kris
AU - Wheeler, Raymond
AU - Whelan, Simon
AU - Wierzbowski, Jamey
AU - Willey, David
AU - Williams, Sophie
AU - Wilson, Richard K.
AU - Winter, Eitan
AU - Worley, Kim C.
AU - Wyman, Dudley
AU - Yang, Shan
AU - Yang, Shiaw Pyng
AU - Zdobnov, Evgeny M.
AU - Zody, Michael C.
AU - Lander, Eric S.
N1 - Funding Information: Acknowledgements We thank J. Takahashi and M. Johnston for comments on the manuscript; the Mouse Liaison Group for strategic advice; L. Gaffney, D. Leja and K.-S. Toh for graphical help; B. Graham and G. Roberts for administrative work on sequencing of individual mouse BACs; and P. Kassos and M. McMurtry for secretarial assistance. We thank D. Hill and L. Corbani of the Mouse Genome Informatics Group for their contributions to the GO analysis for mouse and human, and the members of the Bork group at EMBL for discussions. Funding was provided by the National Institutes of Health (National Human Genome Research Institute, National Cancer Institute, National Institute of Dental and Craniofacial Research, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of General Medical Sciences, National Eye Institute, National Institute of Environmental Health Sciences, National Institute of Aging, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute on Deafness and Other Communication Disorders, National Institute of Mental Health, National Institute on Drug Abuse, National Center for Research Resources, the National Heart Lung and Blood Institute and The Fogarty International Center); the Wellcome Trust; the Howard Hughes Medical Institute; the United States Department of Energy; the National Science Foundation; the Medical Research Council; NSERC; BMBF (German Ministry for Research and Education); the European Molecular Biology Laboratory; Plan Nacional de IþD and Instituto Carlos III; Swiss National Science Foundation, NCCR Frontiers in Genetics, the Swiss Cancer League and the ‘Childcare’ and ‘J. Lejeune’ Foundations; and the Ministry of Education, Culture, Sports, Science and Technology of Japan. The initial threefold sequence coverage was partly supported by the Mouse Sequencing Consortium (GlaxoSmithKline, Merck and Affymetrix) through the Foundation for the National Institutes of Health. We acknowledge A. Holden for coordinating the Mouse Sequencing Consortium. We thank the Sanger Institute systems group for maintenance and provision of the computer resource. The MGSC also used Hewlett-Packard Company’s BioCluster, a configuration of 27 HP AlphaServer ES40 systems with 100 CPUs and 1 terabyte of storage. The BioCluster is housed in Hewlett-Packard’s IQ Solutions Center, and was accessed remotely. The computing resource greatly accelerated the analysis.
PY - 2002/12/5
Y1 - 2002/12/5
N2 - The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome. We also present an initial comparative analysis of the mouse and human genomes, describing some of the insights that can be gleaned from the two sequences. We discuss topics including the analysis of the evolutionary forces shaping the size, structure and sequence of the genomes; the conservation of large-scale synteny across most of the genomes; the much lower extent of sequence orthology covering less than half of the genomes; the proportions of the genomes under selection; the number of protein-coding genes; the expansion of gene families related to reproduction and immunity; the evolution of proteins; and the identification of intraspecies polymorphism.
AB - The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome. We also present an initial comparative analysis of the mouse and human genomes, describing some of the insights that can be gleaned from the two sequences. We discuss topics including the analysis of the evolutionary forces shaping the size, structure and sequence of the genomes; the conservation of large-scale synteny across most of the genomes; the much lower extent of sequence orthology covering less than half of the genomes; the proportions of the genomes under selection; the number of protein-coding genes; the expansion of gene families related to reproduction and immunity; the evolution of proteins; and the identification of intraspecies polymorphism.
UR - http://www.scopus.com/inward/record.url?scp=1542563409&partnerID=8YFLogxK
U2 - 10.1038/nature01262
DO - 10.1038/nature01262
M3 - Article
C2 - 12466850
AN - SCOPUS:1542563409
SN - 0028-0836
VL - 420
SP - 520
EP - 562
JO - Nature
JF - Nature
IS - 6915
ER -