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Pubmed ID :12853948
Publication Date : //

The DNA sequence of human chromosome 7.


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.

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

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