Generation and annotation of the DNA sequences of human chromosomes 2 and 4

LaDeana W. Hillier, Tina A. Graves, Robert S. Fulton, Lucinda A. Fulton, Kymberlie H. Pepin, Patrick Minx, Caryn Wagner-McPherson, Dan Layman, Kristine Wylie, Mandeep Sekhon, Michael C. Becker, Ginger A. Fewell, Kimberly D. Delehaunty, Tracie L. Miner, William E. Nash, Colin Kremitzki, Lachlan Oddy, Hui Du, Hui Sun, Holland Bradshaw-Cordum, Johar Ali, Jason Carter, Matt Cordes, Anthony Harris, Amber Isak, Andrew van Brunt, Christine Nguyen, Feiyu Du, Laura Courtney, Joelle Kalicki, Philip Ozersky, Scott Abbott, Jon Armstrong, Edward A. Belter, Lauren Caruso, Maria Cedroni, Marc Cotton, Teresa Davidson, Anu Desai, Glendoria Elliott, Thomas Erb, Catrina Fronick, Tony Gaige, William Haakenson, Krista Haglund, Andrea Holmes, Richard Harkins, Kyung Kim, Scott S. Kruchowski, Cynthia Madsen Strong, Neenu Grewal, Ernest Goyea, Shunfang Hou, Andrew Levy, Scott Martinka, Kelly Mead, Michael D. McLellan, Rick Meyer, Jennifer Randall-Maher, Chad Tomlinson, Sara Dauphin-Kohlberg, Amy Kozlowicz-Reilly, Neha Shah, Sharhonda Swearengen-Shahid, Jacqueline Snider, Joseph T. Strong, Johanna Thompson, Martin Yoakum, Shawn Leonard, Charlene Pearman, Lee Trani, Maxim Radionenko, Jason E. Waligorski, Chunyan Wang, Susan M. Rock, Aye-Mon Tin-Wollam, Rachel Maupin, Phil Latreille, Michael C. Wendl, Shiaw-Pyng Yang, Craig Pohl, John W. Wallis, John Spieth, Tamberlyn A. Bieri, Nicolas Berkowicz, Joanne O. Nelson, John Osborne, Li Ding, Rekha Meyer, Aniko Sabo, Yoram Shotland, Prashant Sinha, Patricia E. Wohldmann, Lisa L. Cook, Matthew T. Hickenbotham, James Eldred, Donald Williams, Thomas A. Jones, Xinwei She, Francesca D. Ciccarelli, Elisa Izaurralde, James Taylor, Jeremy Schmutz, Richard M. Myers, David R. Cox, Xiaoqiu Huang, John D. McPherson, Elaine R. Mardis, Sandra W. Clifton, Wesley C. Warren, Asif T. Chinwalla, Sean R. Eddy, Marco A. Marra, Ivan Ovcharenko, Terrence S. Furey, Webb Miller, Evan E. Eichler, Peer Bork, Mikita Suyama, David Torrents, Robert H. Waterston and Richard K. Wilson ()
Additional contact information
LaDeana W. Hillier: Washington University School of Medicine
Tina A. Graves: Washington University School of Medicine
Robert S. Fulton: Washington University School of Medicine
Lucinda A. Fulton: Washington University School of Medicine
Kymberlie H. Pepin: Washington University School of Medicine
Patrick Minx: Washington University School of Medicine
Caryn Wagner-McPherson: Washington University School of Medicine
Dan Layman: Washington University School of Medicine
Kristine Wylie: Washington University School of Medicine
Mandeep Sekhon: Washington University School of Medicine
Michael C. Becker: Washington University School of Medicine
Ginger A. Fewell: Washington University School of Medicine
Kimberly D. Delehaunty: Washington University School of Medicine
Tracie L. Miner: Washington University School of Medicine
William E. Nash: Washington University School of Medicine
Colin Kremitzki: Washington University School of Medicine
Lachlan Oddy: Washington University School of Medicine
Hui Du: Washington University School of Medicine
Hui Sun: Washington University School of Medicine
Holland Bradshaw-Cordum: Washington University School of Medicine
Johar Ali: Washington University School of Medicine
Jason Carter: Washington University School of Medicine
Matt Cordes: Washington University School of Medicine
Anthony Harris: Washington University School of Medicine
Amber Isak: Washington University School of Medicine
Andrew van Brunt: Washington University School of Medicine
Christine Nguyen: Washington University School of Medicine
Feiyu Du: Washington University School of Medicine
Laura Courtney: Washington University School of Medicine
Joelle Kalicki: Washington University School of Medicine
Philip Ozersky: Washington University School of Medicine
Scott Abbott: Washington University School of Medicine
Jon Armstrong: Washington University School of Medicine
Edward A. Belter: Washington University School of Medicine
Lauren Caruso: Washington University School of Medicine
Maria Cedroni: Washington University School of Medicine
Marc Cotton: Washington University School of Medicine
Teresa Davidson: Washington University School of Medicine
Anu Desai: Washington University School of Medicine
Glendoria Elliott: Washington University School of Medicine
Thomas Erb: Washington University School of Medicine
Catrina Fronick: Washington University School of Medicine
Tony Gaige: Washington University School of Medicine
William Haakenson: Washington University School of Medicine
Krista Haglund: Washington University School of Medicine
Andrea Holmes: Washington University School of Medicine
Richard Harkins: Washington University School of Medicine
Kyung Kim: Washington University School of Medicine
Scott S. Kruchowski: Washington University School of Medicine
Cynthia Madsen Strong: Washington University School of Medicine
Neenu Grewal: Washington University School of Medicine
Ernest Goyea: Washington University School of Medicine
Shunfang Hou: Washington University School of Medicine
Andrew Levy: Washington University School of Medicine
Scott Martinka: Washington University School of Medicine
Kelly Mead: Washington University School of Medicine
Michael D. McLellan: Washington University School of Medicine
Rick Meyer: Washington University School of Medicine
Jennifer Randall-Maher: Washington University School of Medicine
Chad Tomlinson: Washington University School of Medicine
Sara Dauphin-Kohlberg: Washington University School of Medicine
Amy Kozlowicz-Reilly: Washington University School of Medicine
Neha Shah: Washington University School of Medicine
Sharhonda Swearengen-Shahid: Washington University School of Medicine
Jacqueline Snider: Washington University School of Medicine
Joseph T. Strong: Washington University School of Medicine
Johanna Thompson: Washington University School of Medicine
Martin Yoakum: Washington University School of Medicine
Shawn Leonard: Washington University School of Medicine
Charlene Pearman: Washington University School of Medicine
Lee Trani: Washington University School of Medicine
Maxim Radionenko: Washington University School of Medicine
Jason E. Waligorski: Washington University School of Medicine
Chunyan Wang: Washington University School of Medicine
Susan M. Rock: Washington University School of Medicine
Aye-Mon Tin-Wollam: Washington University School of Medicine
Rachel Maupin: Washington University School of Medicine
Phil Latreille: Washington University School of Medicine
Michael C. Wendl: Washington University School of Medicine
Shiaw-Pyng Yang: Washington University School of Medicine
Craig Pohl: Washington University School of Medicine
John W. Wallis: Washington University School of Medicine
John Spieth: Washington University School of Medicine
Tamberlyn A. Bieri: Washington University School of Medicine
Nicolas Berkowicz: Washington University School of Medicine
Joanne O. Nelson: Washington University School of Medicine
John Osborne: Washington University School of Medicine
Li Ding: Washington University School of Medicine
Rekha Meyer: Washington University School of Medicine
Aniko Sabo: Washington University School of Medicine
Yoram Shotland: Washington University School of Medicine
Prashant Sinha: Washington University School of Medicine
Patricia E. Wohldmann: Washington University School of Medicine
Lisa L. Cook: Washington University School of Medicine
Matthew T. Hickenbotham: Washington University School of Medicine
James Eldred: Washington University School of Medicine
Donald Williams: Washington University School of Medicine
Thomas A. Jones: Washington University School of Medicine
Xinwei She: Genome Sciences, University of Washington School of Medicine
Francesca D. Ciccarelli: EMBL
Elisa Izaurralde: EMBL
James Taylor: Pennsylvania State University
Jeremy Schmutz: Stanford University School of Medicine
Richard M. Myers: Stanford University School of Medicine
David R. Cox: Stanford University School of Medicine
Xiaoqiu Huang: Iowa State University
John D. McPherson: Washington University School of Medicine
Elaine R. Mardis: Washington University School of Medicine
Sandra W. Clifton: Washington University School of Medicine
Wesley C. Warren: Washington University School of Medicine
Asif T. Chinwalla: Washington University School of Medicine
Sean R. Eddy: Washington University School of Medicine
Marco A. Marra: Washington University School of Medicine
Ivan Ovcharenko: Lawrence Livermore National Laboratory
Terrence S. Furey: University of California
Webb Miller: Pennsylvania State University
Evan E. Eichler: Genome Sciences, University of Washington School of Medicine
Peer Bork: EMBL
Mikita Suyama: EMBL
David Torrents: EMBL
Robert H. Waterston: Washington University School of Medicine
Richard K. Wilson: Washington University School of Medicine

Nature, 2005, vol. 434, issue 7034, 724-731

Abstract: Abstract Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.

Date: 2005
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DOI: 10.1038/nature03466

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