The DNA sequence of human chromosome 7

LaDeana W. Hillier, Robert S. Fulton, Lucinda A. Fulton, Tina A. Graves, Kymberlie H. Pepin, Caryn Wagner-McPherson, Dan Layman, Jason Maas, Sara Jaeger, Rebecca Walker, Kristine Wylie, Mandeep Sekhon, Michael C. Becker, Michelle D. O'Laughlin, Mark E. Schaller, Ginger A. Fewell, Kimberly D. Delehaunty, Tracie L. Miner, William E. Nash, Matt Cordes, Hui Du, Hui Sun, Jennifer Edwards, Holland Bradshaw-Cordum, Johar Ali, Stephanie Andrews, Amber Isak, Andrew VanBrunt, Christine Nguyen, Feiyu Du, Betty Lamar, Laura Courtney, Joelle Kalicki, Philip Ozersky, Lauren Bielicki, Kelsi Scott, Andrea Holmes, Richard Harkins, Anthony Harris, Cynthia Madsen Strong, Shunfang Hou, Chad Tomlinson, Sara Dauphin-Kohlberg, Amy Kozlowicz-Reilly, Shawn Leonard, Theresa Rohlfing, Susan M. Rock, Aye-Mon Tin-Wollam, Amanda Abbott, Patrick Minx, Rachel Maupin, Catrina Strowmatt, Phil Latreille, Nancy Miller, Doug Johnson, Jennifer Murray, Jeffrey P. Woessner, Michael C. Wendl, Shiaw-Pyng Yang, Brian R. Schultz, John W. Wallis, John Spieth, Tamberlyn A. Bieri, Joanne O. Nelson, Nicolas Berkowicz, Patricia E. Wohldmann, Lisa L. Cook, Matthew T. Hickenbotham, James Eldred, Donald Williams, Joseph A. Bedell, Elaine R. Mardis, Sandra W. Clifton, Stephanie L. Chissoe, Marco A. Marra, Christopher Raymond, Eric Haugen, Will Gillett, Yang Zhou, Rose James, Karen Phelps, Shawn Iadanoto, Kerry Bubb, Elizabeth Simms, Ruth Levy, James Clendenning, Rajinder Kaul, W. James Kent, Terrence S. Furey, Robert A. Baertsch, Michael R. Brent, Evan Keibler, Paul Flicek, Peer Bork, Mikita Suyama, Jeffrey A. Bailey, Matthew E. Portnoy, David Torrents, Asif T. Chinwalla, Warren R. Gish, Sean R. Eddy, John D. McPherson, Maynard V. Olson, Evan E. Eichler, Eric D. Green, Robert H. Waterston and Richard K. Wilson ()
Additional contact information
LaDeana W. Hillier: Genome Sequencing Center, Washington University School of Medicine
Robert S. Fulton: Genome Sequencing Center, Washington University School of Medicine
Lucinda A. Fulton: Genome Sequencing Center, Washington University School of Medicine
Tina A. Graves: Genome Sequencing Center, Washington University School of Medicine
Kymberlie H. Pepin: Genome Sequencing Center, Washington University School of Medicine
Caryn Wagner-McPherson: Genome Sequencing Center, Washington University School of Medicine
Dan Layman: Genome Sequencing Center, Washington University School of Medicine
Jason Maas: Genome Sequencing Center, Washington University School of Medicine
Sara Jaeger: Genome Sequencing Center, Washington University School of Medicine
Rebecca Walker: Genome Sequencing Center, Washington University School of Medicine
Kristine Wylie: Genome Sequencing Center, Washington University School of Medicine
Mandeep Sekhon: Genome Sequencing Center, Washington University School of Medicine
Michael C. Becker: Genome Sequencing Center, Washington University School of Medicine
Michelle D. O'Laughlin: Genome Sequencing Center, Washington University School of Medicine
Mark E. Schaller: Genome Sequencing Center, Washington University School of Medicine
Ginger A. Fewell: Genome Sequencing Center, Washington University School of Medicine
Kimberly D. Delehaunty: Genome Sequencing Center, Washington University School of Medicine
Tracie L. Miner: Genome Sequencing Center, Washington University School of Medicine
William E. Nash: Genome Sequencing Center, Washington University School of Medicine
Matt Cordes: Genome Sequencing Center, Washington University School of Medicine
Hui Du: Genome Sequencing Center, Washington University School of Medicine
Hui Sun: Genome Sequencing Center, Washington University School of Medicine
Jennifer Edwards: Genome Sequencing Center, Washington University School of Medicine
Holland Bradshaw-Cordum: Genome Sequencing Center, Washington University School of Medicine
Johar Ali: Genome Sequencing Center, Washington University School of Medicine
Stephanie Andrews: Genome Sequencing Center, Washington University School of Medicine
Amber Isak: Genome Sequencing Center, Washington University School of Medicine
Andrew VanBrunt: Genome Sequencing Center, Washington University School of Medicine
Christine Nguyen: Genome Sequencing Center, Washington University School of Medicine
Feiyu Du: Genome Sequencing Center, Washington University School of Medicine
Betty Lamar: Genome Sequencing Center, Washington University School of Medicine
Laura Courtney: Genome Sequencing Center, Washington University School of Medicine
Joelle Kalicki: Genome Sequencing Center, Washington University School of Medicine
Philip Ozersky: Genome Sequencing Center, Washington University School of Medicine
Lauren Bielicki: Genome Sequencing Center, Washington University School of Medicine
Kelsi Scott: Genome Sequencing Center, Washington University School of Medicine
Andrea Holmes: Genome Sequencing Center, Washington University School of Medicine
Richard Harkins: Genome Sequencing Center, Washington University School of Medicine
Anthony Harris: Genome Sequencing Center, Washington University School of Medicine
Cynthia Madsen Strong: Genome Sequencing Center, Washington University School of Medicine
Shunfang Hou: Genome Sequencing Center, Washington University School of Medicine
Chad Tomlinson: Genome Sequencing Center, Washington University School of Medicine
Sara Dauphin-Kohlberg: Genome Sequencing Center, Washington University School of Medicine
Amy Kozlowicz-Reilly: Genome Sequencing Center, Washington University School of Medicine
Shawn Leonard: Genome Sequencing Center, Washington University School of Medicine
Theresa Rohlfing: Genome Sequencing Center, Washington University School of Medicine
Susan M. Rock: Genome Sequencing Center, Washington University School of Medicine
Aye-Mon Tin-Wollam: Genome Sequencing Center, Washington University School of Medicine
Amanda Abbott: Genome Sequencing Center, Washington University School of Medicine
Patrick Minx: Genome Sequencing Center, Washington University School of Medicine
Rachel Maupin: Genome Sequencing Center, Washington University School of Medicine
Catrina Strowmatt: Genome Sequencing Center, Washington University School of Medicine
Phil Latreille: Genome Sequencing Center, Washington University School of Medicine
Nancy Miller: Genome Sequencing Center, Washington University School of Medicine
Doug Johnson: Genome Sequencing Center, Washington University School of Medicine
Jennifer Murray: Genome Sequencing Center, Washington University School of Medicine
Jeffrey P. Woessner: Genome Sequencing Center, Washington University School of Medicine
Michael C. Wendl: Genome Sequencing Center, Washington University School of Medicine
Shiaw-Pyng Yang: Genome Sequencing Center, Washington University School of Medicine
Brian R. Schultz: Genome Sequencing Center, Washington University School of Medicine
John W. Wallis: Genome Sequencing Center, Washington University School of Medicine
John Spieth: Genome Sequencing Center, Washington University School of Medicine
Tamberlyn A. Bieri: Genome Sequencing Center, Washington University School of Medicine
Joanne O. Nelson: Genome Sequencing Center, Washington University School of Medicine
Nicolas Berkowicz: Genome Sequencing Center, Washington University School of Medicine
Patricia E. Wohldmann: Genome Sequencing Center, Washington University School of Medicine
Lisa L. Cook: Genome Sequencing Center, Washington University School of Medicine
Matthew T. Hickenbotham: Genome Sequencing Center, Washington University School of Medicine
James Eldred: Genome Sequencing Center, Washington University School of Medicine
Donald Williams: Genome Sequencing Center, Washington University School of Medicine
Joseph A. Bedell: Genome Sequencing Center, Washington University School of Medicine
Elaine R. Mardis: Genome Sequencing Center, Washington University School of Medicine
Sandra W. Clifton: Genome Sequencing Center, Washington University School of Medicine
Stephanie L. Chissoe: Genome Sequencing Center, Washington University School of Medicine
Marco A. Marra: Genome Sequencing Center, Washington University School of Medicine
Christopher Raymond: University of Washington Genome Center
Eric Haugen: University of Washington Genome Center
Will Gillett: University of Washington Genome Center
Yang Zhou: University of Washington Genome Center
Rose James: University of Washington Genome Center
Karen Phelps: University of Washington Genome Center
Shawn Iadanoto: University of Washington Genome Center
Kerry Bubb: University of Washington Genome Center
Elizabeth Simms: University of Washington Genome Center
Ruth Levy: University of Washington Genome Center
James Clendenning: University of Washington Genome Center
Rajinder Kaul: University of Washington Genome Center
W. James Kent: University of California
Terrence S. Furey: University of California
Robert A. Baertsch: University of California
Michael R. Brent: Washington University
Evan Keibler: Washington University
Paul Flicek: Washington University
Peer Bork: EMBL
Mikita Suyama: EMBL
Jeffrey A. Bailey: Case Western Reserve University School of Medicine and University Hospitals of Cleveland
Matthew E. Portnoy: National Institutes of Health, Building 50, Room 5222
David Torrents: EMBL
Asif T. Chinwalla: Genome Sequencing Center, Washington University School of Medicine
Warren R. Gish: Genome Sequencing Center, Washington University School of Medicine
Sean R. Eddy: Washington University School of Medicine
John D. McPherson: Genome Sequencing Center, Washington University School of Medicine
Maynard V. Olson: University of Washington Genome Center
Evan E. Eichler: Case Western Reserve University School of Medicine and University Hospitals of Cleveland
Eric D. Green: National Institutes of Health, Building 50, Room 5222
Robert H. Waterston: Genome Sequencing Center, Washington University School of Medicine
Richard K. Wilson: Genome Sequencing Center, Washington University School of Medicine

Nature, 2003, vol. 424, issue 6945, 157-164

Abstract: Abstract Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.

Date: 2003
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DOI: 10.1038/nature01782

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