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Pubmed ID :15815621
Publication Date : //

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


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.

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

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