Document Detail

Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
MedLine Citation:
PMID:  15815621     Owner:  NLM     Status:  MEDLINE    
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.
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; Richard K Wilson
Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature     Volume:  434     ISSN:  1476-4687     ISO Abbreviation:  Nature     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-04-07     Completed Date:  2005-04-21     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0410462     Medline TA:  Nature     Country:  England    
Other Details:
Languages:  eng     Pagination:  724-31     Citation Subset:  IM    
Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St. Louis, Missouri 63108, USA.
Data Bank Information
Bank Name/Acc. No.:
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MeSH Terms
Base Composition
Base Sequence
Centromere / genetics
Chromosomes, Human, Pair 2 / genetics*
Chromosomes, Human, Pair 4 / genetics*
Conserved Sequence / genetics
CpG Islands / genetics
Euchromatin / genetics
Expressed Sequence Tags
Gene Duplication
Genetic Variation / genetics
Molecular Sequence Data
Physical Chromosome Mapping
Polymorphism, Genetic / genetics
Primates / genetics
Proteins / genetics
Pseudogenes / genetics
RNA, Messenger / analysis,  genetics
RNA, Untranslated / analysis,  genetics
Recombination, Genetic / genetics
Sequence Analysis, DNA
Reg. No./Substance:
0/Euchromatin; 0/Proteins; 0/RNA, Messenger; 0/RNA, Untranslated

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