ϟ
DOI: 10.1038/nature03466
¤ OpenAccess: Bronze
This work has “Bronze” OA status. This means it is free to read on the publisher landing page, but without any identifiable license.
Generation and annotation of the DNA sequences of human chromosomes 2 and 4
La Deana W. Hillier,Tina Graves,Robert S. Fulton,Lucinda A. Fulton,Kymberlie H. Pepin,Patrick Minx,Caryn Wagner-McPherson,Dan Layman,Kristine M. Wylie,Mandeep Sekhon,Michelle 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 D. Harris,Amber Isak,Andrew Van Brunt,Christine Nguyen,Feiyu Du,Laura Courtney,Joelle Kalicki,Philip Ozersky,Scott Abbott,Jon R. Armstrong,Edward A. Belter,Lauren S. Caruso,Maria Louise Cedroni,Marc Cotton,Teresa Davidson,Anant Desai,Glendoria Elliott,Thomas O. Erb,Catrina C. Fronick,Tony Gaige,William Haakenson,Krista Haglund,Andrea E. Holmes,Richard Harkins,Kyung Kim,Scott Kruchowski,Cynthia Madsen Strong,Neenu Grewal,Ernest Goyea,Shunfang Hou,Andrew P. 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,J.E. Thompson,Martin Yoakum,Shawn Leonard,Charlene Pearman,Lee Trani,Maxim Radionenko,Jason 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 Strouboulis,Tamberlyn Bieri,Nicolas Berkowicz,Joanne O. Nelson,John R. Osborne,Ding Li,Rekha Meyer,Aniko Sabo,Yoram Shotland,Prashant R. Sinha,Patricia Wohldmann,Lisa L. Cook,Matthew T. Hickenbotham,James M. Eldred,Donald Williams,Thomas A. Jones,Xinwei She,Francesca D. Ciccarelli,Elisa Izaurralde,James Taylor,Jeremy Schmutz,R Myers,David Cox,Xiaoqiu Huang,John Douglas 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
Biology
Genetics
Pseudogene
2005
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. The comprehensive annotated sequences of human chromosomes 2 and 4 are published this week. Together, they represent 5% of the estimated size of the human genome; chromosome 2 contains the largest amount of genetically active DNA sequence of any human chromosome. Chromosome 2 is of particular interest in terms of human evolution, as it is the product of head-to-head fusion of two ancestral chromosomes after the separation of the human and chimpanzee lineages.
Loading...
- MLA
- APA
- Chicago
- IEEE
- Harvard
- BibTeX
Cite this:
Generate Citation
“Generation and annotation of the DNA sequences of human chromosomes 2 and 4” is a paper by La Deana W. Hillier Tina Graves Robert S. Fulton Lucinda A. Fulton Kymberlie H. Pepin Patrick Minx Caryn Wagner-McPherson Dan Layman Kristine M. Wylie Mandeep Sekhon Michelle 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 D. Harris Amber Isak Andrew Van Brunt Christine Nguyen Feiyu Du Laura Courtney Joelle Kalicki Philip Ozersky Scott Abbott Jon R. Armstrong Edward A. Belter Lauren S. Caruso Maria Louise Cedroni Marc Cotton Teresa Davidson Anant Desai Glendoria Elliott Thomas O. Erb Catrina C. Fronick Tony Gaige William Haakenson Krista Haglund Andrea E. Holmes Richard Harkins Kyung Kim Scott Kruchowski Cynthia Madsen Strong Neenu Grewal Ernest Goyea Shunfang Hou Andrew P. 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 J.E. Thompson Martin Yoakum Shawn Leonard Charlene Pearman Lee Trani Maxim Radionenko Jason 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 Strouboulis Tamberlyn Bieri Nicolas Berkowicz Joanne O. Nelson John R. Osborne Ding Li Rekha Meyer Aniko Sabo Yoram Shotland Prashant R. Sinha Patricia Wohldmann Lisa L. Cook Matthew T. Hickenbotham James M. Eldred Donald Williams Thomas A. Jones Xinwei She Francesca D. Ciccarelli Elisa Izaurralde James Taylor Jeremy Schmutz R Myers David Cox Xiaoqiu Huang John Douglas 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 published in 2005. It has an Open Access status of “bronze”. You can read and download a PDF Full Text of this paper here.