The DNA sequence of human chromosome 7

La Deana W. Hillier, Robert 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 CordesHui Du, Hui Sun, Jennifer Edwards, Holland Bradshaw-Cordum, Johar Ali, Stephanie Andrews, Amber Isak, Andrew Van Brunt, 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 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 Borkk, Mikita Suyamak, Jeffrey A. Bailey, Matthew E. Portnoy, David Torrentsk, Asif T. Chinwalla, Warren R. Gish, Sean R. Eddy, John D. McPherson, Maynard V. Olson, Evan E. Eichler, Eric D. Green, Robert H. Waterston, Richard K. Wilson

Research output: Contribution to journalArticle

194 Scopus citations

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.

Original languageEnglish
Pages (from-to)157-164
Number of pages8
JournalNature
Volume424
Issue number6945
DOIs
StatePublished - Jul 10 2003

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    Hillier, L. D. W., Fulton, R., Fulton, L. A., Graves, T. A., Pepin, K. H., Wagner-McPherson, C., Layman, D., Maas, J., Jaeger, S., Walker, R., Wylie, K., Sekhon, M., Becker, M. C., O'Laughlin, M. D., Schaller, M. E., Fewell, G. A., Delehaunty, K. D., Miner, T. L., Nash, W. E., ... Wilson, R. K. (2003). The DNA sequence of human chromosome 7. Nature, 424(6945), 157-164. https://doi.org/10.1038/nature01782