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

La Deana 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-CordumJohar 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

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Abstract

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.

Original languageEnglish
Pages (from-to)724-731
Number of pages8
JournalNature
Volume434
Issue number7034
DOIs
Publication statusPublished - Apr 7 2005

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Hillier, L. D. W., Graves, T. A., Fulton, R. S., Fulton, L. A., Pepin, K. H., Minx, P., ... Wilson, R. K. (2005). Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature, 434(7034), 724-731. https://doi.org/10.1038/nature03466