The sequence and analysis of duplication-rich human chromosome 16

Martin, Joel; Han, Cliff; Gordon, Laurie A.; Terry, Astrid; Prabhakar, Shyam; She, Xinwei; Xie, Gary; Hellsten, Uffe; Chan, Yee Man; Altherr, Michael; Couronne, Olivier; Aerts, Andrea; Bajorek, Eva; Black, Stacey; Blumer, Heather; Branscomb, Elbert; Brown, Nancy C.; Bruno, William J.; Buckingham, Judith M.; Callen, David F.; Campbell, Connie S.; Campbell, Mary L.; Campbell, Evelyn W.; Caoile, Chenier; Challacombe, Jean F.; Chasteen, Leslie A.; Chertkov, Olga; Chi, Han C.; Christensen, Mari; Clark, Lynn M.; Cohn, Judith D.; Denys, Mirian; Detter, John C.; Dickson, Mark; Dimitrijevic-Bussod, Mira; Escobar, Julio; Fawcett, Joseph J.; Flowers, Dave; Fotopulos, Dea; Glavina, Tijana; Gomez, Maria; Gonzales, Eidelyn; Goodstein, David; Goodwin, Lynne A.; Grady, Deborah L.; Grigoriev, Igor; Groza, Matthew; Hammon, Nancy; Hawkins, Trevor; Haydu, Lauren; Hildebrand, Carl E.; Huang, Wayne; Israni, Sanjay; Jett, Jamie; Jewett, Phillip B.; Kadner, Kristen; Kimball, Heather; Kobayashi, Arthur; Krawczyk, Marie-Claude; Leyba, Tina; Longmire, Jonathan L.; Lopez, Frederick; Lou, Yunian; Lowry, Steve; Ludeman, Thom; Manohar, Chitra F.; Mark, Graham A.; McMurray, Kimberly L.; Meincke, Linda J.; Morgan, Jenna; Moyzis, Robert K.; Mundt, Mark O.; Munk, A. Christine; Nandkeshwar, Richard D.; Pitluck, Sam; Pollard, Martin; Predki, Paul; Parson-Quintana, Beverly; Ramirez, Lucia; Rash, Sam; Retterer, James; Ricke, Darryl O.; Robinson, Donna L.; Rodriguez, Alex; Salamov, Asaf; Saunders, Elizabeth H.; Scott, Duncan; Shough, Timothy; Stallings, Raymond L.; Stalvey, Malinda; Sutherland, Robert D.; Tapia, Roxanne; Tesmer, Judith G.; Thayer, Nina; Thompson, Linda S.; Tice, Hope; Torney, David C.; Tran-Gyamfi, Mary; Tsai, Ming; Ulanovsky, Levy E.; Ustaszewska, Anna; Vo, Nu; White, P. Scott; Williams, Albert L.; Wills, Patricia L.; Wu, Jung-Rung; Wu, Kevin; Yang, Joan; DeJong, Pieter; Bruce, David; Doggett, Norman A.; Deaven, Larry; Schmutz, Jeremy; Grimwood, Jane; Richardson, Paul; Rokhsar, Daniel S.; Eichler, Evan E.; Gilna, Paul; Lucas, Susan M.; Myers, Richard M.; Rubin, Edward M.; Pennacchio, Len A.

The sequence and analysis of duplication-rich human chromosome 16

Joel Martin, Cliff Han, Laurie A. Gordon, Astrid Terry, Shyam Prabhakar, Xinwei She, Gary Xie, Uffe Hellsten, Yee Man Chan, Michael Altherr, Olivier Couronne, Andrea Aerts, Eva Bajorek, Stacey Black, Heather Blumer, Elbert Branscomb, Nancy C. Brown, William J. Bruno, Judith M. Buckingham, David F. Callen, Connie S. Campbell, Mary L. Campbell, Evelyn W. Campbell, Chenier Caoile, Jean F. Challacombe, Leslie A. Chasteen, Olga Chertkov, Han C. Chi, Mari Christensen, Lynn M. Clark, Judith D. Cohn, Mirian Denys, John C. Detter, Mark Dickson, Mira Dimitrijevic-Bussod, Julio Escobar, Joseph J. Fawcett, Dave Flowers, Dea Fotopulos, Tijana Glavina, Maria Gomez, Eidelyn Gonzales, David Goodstein, Lynne A. Goodwin, Deborah L. Grady, Igor Grigoriev, Matthew Groza, Nancy Hammon, Trevor Hawkins, Lauren Haydu, Carl E. Hildebrand, Wayne Huang, Sanjay Israni, Jamie Jett, Phillip B. Jewett, Kristen Kadner, Heather Kimball, Arthur Kobayashi, Marie-Claude Krawczyk, Tina Leyba, Jonathan L. Longmire, Frederick Lopez, Yunian Lou, Steve Lowry, Thom Ludeman, Chitra F. Manohar, Graham A. Mark, Kimberly L. McMurray, Linda J. Meincke, Jenna Morgan, Robert K. Moyzis, Mark O. Mundt, A. Christine Munk, Richard D. Nandkeshwar, Sam Pitluck, Martin Pollard, Paul Predki, Beverly Parson-Quintana, Lucia Ramirez, Sam Rash, James Retterer, Darryl O. Ricke, Donna L. Robinson, Alex Rodriguez, Asaf Salamov, Elizabeth H. Saunders, Duncan Scott, Timothy Shough, Raymond L. Stallings, Malinda Stalvey, Robert D. Sutherland, Roxanne Tapia, Judith G. Tesmer, Nina Thayer, Linda S. Thompson, Hope Tice, David C. Torney, Mary Tran-Gyamfi, Ming Tsai, Levy E. Ulanovsky, Anna Ustaszewska, Nu Vo, P. Scott White, Albert L. Williams, Patricia L. Wills, Jung-Rung Wu, Kevin Wu, Joan Yang, Pieter DeJong, David Bruce, Norman A. Doggett, Larry Deaven, Jeremy Schmutz, Jane Grimwood, Paul Richardson, Daniel S. Rokhsar, Evan E. Eichler, Paul Gilna, Susan M. Lucas, Richard M. Myers, Edward M. Rubin () and Len A. Pennacchio ()
Additional contact information
Joel Martin: DOE Joint Genome Institute
Cliff Han: Los Alamos National Laboratory
Laurie A. Gordon: DOE Joint Genome Institute
Astrid Terry: DOE Joint Genome Institute
Shyam Prabhakar: Lawrence Berkeley National Laboratory
Xinwei She: University of Washington
Gary Xie: DOE Joint Genome Institute
Uffe Hellsten: DOE Joint Genome Institute
Yee Man Chan: Stanford University School of Medicine
Michael Altherr: DOE Joint Genome Institute
Olivier Couronne: Lawrence Berkeley National Laboratory
Andrea Aerts: DOE Joint Genome Institute
Eva Bajorek: Stanford University School of Medicine
Stacey Black: Stanford University School of Medicine
Heather Blumer: Los Alamos National Laboratory
Elbert Branscomb: DOE Joint Genome Institute
Nancy C. Brown: Los Alamos National Laboratory
William J. Bruno: Los Alamos National Laboratory
Judith M. Buckingham: Los Alamos National Laboratory
David F. Callen: Los Alamos National Laboratory
Connie S. Campbell: Los Alamos National Laboratory
Mary L. Campbell: Los Alamos National Laboratory
Evelyn W. Campbell: Los Alamos National Laboratory
Chenier Caoile: Stanford University School of Medicine
Jean F. Challacombe: Los Alamos National Laboratory
Leslie A. Chasteen: Los Alamos National Laboratory
Olga Chertkov: Los Alamos National Laboratory
Han C. Chi: Los Alamos National Laboratory
Mari Christensen: Lawrence Livermore National Laboratory
Lynn M. Clark: Los Alamos National Laboratory
Judith D. Cohn: Los Alamos National Laboratory
Mirian Denys: Stanford University School of Medicine
John C. Detter: DOE Joint Genome Institute
Mark Dickson: Stanford University School of Medicine
Mira Dimitrijevic-Bussod: Los Alamos National Laboratory
Julio Escobar: Stanford University School of Medicine
Joseph J. Fawcett: Los Alamos National Laboratory
Dave Flowers: Stanford University School of Medicine
Dea Fotopulos: Stanford University School of Medicine
Tijana Glavina: DOE Joint Genome Institute
Maria Gomez: Stanford University School of Medicine
Eidelyn Gonzales: Stanford University School of Medicine
David Goodstein: DOE Joint Genome Institute
Lynne A. Goodwin: Los Alamos National Laboratory
Deborah L. Grady: Los Alamos National Laboratory
Igor Grigoriev: DOE Joint Genome Institute
Matthew Groza: Lawrence Livermore National Laboratory
Nancy Hammon: DOE Joint Genome Institute
Trevor Hawkins: DOE Joint Genome Institute
Lauren Haydu: Stanford University School of Medicine
Carl E. Hildebrand: Los Alamos National Laboratory
Wayne Huang: DOE Joint Genome Institute
Sanjay Israni: DOE Joint Genome Institute
Jamie Jett: DOE Joint Genome Institute
Phillip B. Jewett: Los Alamos National Laboratory
Kristen Kadner: DOE Joint Genome Institute
Heather Kimball: DOE Joint Genome Institute
Arthur Kobayashi: DOE Joint Genome Institute
Marie-Claude Krawczyk: Los Alamos National Laboratory
Tina Leyba: Los Alamos National Laboratory
Jonathan L. Longmire: Los Alamos National Laboratory
Frederick Lopez: Stanford University School of Medicine
Yunian Lou: DOE Joint Genome Institute
Steve Lowry: DOE Joint Genome Institute
Thom Ludeman: Los Alamos National Laboratory
Chitra F. Manohar: Lawrence Livermore National Laboratory
Graham A. Mark: Los Alamos National Laboratory
Kimberly L. McMurray: Los Alamos National Laboratory
Linda J. Meincke: Los Alamos National Laboratory
Jenna Morgan: DOE Joint Genome Institute
Robert K. Moyzis: Los Alamos National Laboratory
Mark O. Mundt: Los Alamos National Laboratory
A. Christine Munk: Los Alamos National Laboratory
Richard D. Nandkeshwar: Lawrence Livermore National Laboratory
Sam Pitluck: DOE Joint Genome Institute
Martin Pollard: DOE Joint Genome Institute
Paul Predki: DOE Joint Genome Institute
Beverly Parson-Quintana: Los Alamos National Laboratory
Lucia Ramirez: Stanford University School of Medicine
Sam Rash: DOE Joint Genome Institute
James Retterer: Stanford University School of Medicine
Darryl O. Ricke: Los Alamos National Laboratory
Donna L. Robinson: Los Alamos National Laboratory
Alex Rodriguez: Stanford University School of Medicine
Asaf Salamov: DOE Joint Genome Institute
Elizabeth H. Saunders: Los Alamos National Laboratory
Duncan Scott: DOE Joint Genome Institute
Timothy Shough: Los Alamos National Laboratory
Raymond L. Stallings: Los Alamos National Laboratory
Malinda Stalvey: Los Alamos National Laboratory
Robert D. Sutherland: Los Alamos National Laboratory
Roxanne Tapia: Los Alamos National Laboratory
Judith G. Tesmer: Los Alamos National Laboratory
Nina Thayer: DOE Joint Genome Institute
Linda S. Thompson: Los Alamos National Laboratory
Hope Tice: DOE Joint Genome Institute
David C. Torney: Los Alamos National Laboratory
Mary Tran-Gyamfi: DOE Joint Genome Institute
Ming Tsai: Stanford University School of Medicine
Levy E. Ulanovsky: Los Alamos National Laboratory
Anna Ustaszewska: DOE Joint Genome Institute
Nu Vo: Stanford University School of Medicine
P. Scott White: Los Alamos National Laboratory
Albert L. Williams: Los Alamos National Laboratory
Patricia L. Wills: Los Alamos National Laboratory
Jung-Rung Wu: Los Alamos National Laboratory
Kevin Wu: Stanford University School of Medicine
Joan Yang: Stanford University School of Medicine
Pieter DeJong: Children's Hospital Oakland
David Bruce: Los Alamos National Laboratory
Norman A. Doggett: Los Alamos National Laboratory
Larry Deaven: Los Alamos National Laboratory
Jeremy Schmutz: Stanford University School of Medicine
Jane Grimwood: Stanford University School of Medicine
Paul Richardson: DOE Joint Genome Institute
Daniel S. Rokhsar: DOE Joint Genome Institute
Evan E. Eichler: University of Washington
Paul Gilna: Los Alamos National Laboratory
Susan M. Lucas: DOE Joint Genome Institute
Richard M. Myers: Stanford University School of Medicine
Edward M. Rubin: DOE Joint Genome Institute
Len A. Pennacchio: DOE Joint Genome Institute

Nature, 2004, vol. 432, issue 7020, 988-994

Abstract: Abstract Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, representing over 99.9% of its euchromatin. Manual annotation revealed 880 protein-coding genes confirmed by 1,670 aligned transcripts, 19 transfer RNA genes, 341 pseudogenes and three RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukaemia. Several large-scale structural polymorphisms spanning hundreds of kilobase pairs were identified and result in gene content differences among humans. Whereas the segmental duplications of chromosome 16 are enriched in the relatively gene-poor pericentromere of the p arm, some are involved in recent gene duplication and conversion events that are likely to have had an impact on the evolution of primates and human disease susceptibility.

Date: 2004
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/nature03187 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:432:y:2004:i:7020:d:10.1038_nature03187

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature03187

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().