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The sequence and analysis of duplication-rich human chromosome 16

2004; Nature Portfolio; Volume: 432; Issue: 7020 Linguagem: Inglês

10.1038/nature03187

1476-4687

Joel Martin, Cliff Han, Laurie Gordon, Astrid Terry, Shyam Prabhakar, Xinwei She, Gary Xie, Uffe Hellsten, Yee Man Chan, Michael R. Altherr, Olivier Couronne, Andrea Aerts, Eva Bajorek, Stacey Black, Heather Blumer, Elbert Branscomb, Nancy C. Brown, William Bruno, Judith M. Buckingham, David F. Callen, Connie S. Campbell, Mary L. Campbell, E.W. Campbell, Chenier Caoile, Jean F. Challacombe, Leslie Chasteen, Olga Chertkov, Han Chu, 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, María Lucía Gutiérrez Gómez, Eidelyn Gonzales, David Goodstein, Lynne Goodwin, Deborah L. Grady, Igor V. Grigoriev, Matthew Groza, Nancy Hammon, Trevor Hawkins, Lauren E. Haydu, C.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 Manohar, Graham A. Mark, Kimberly L. Mcmurray, Linda Meincke, Jenna Morgan, Robert K. Moyzis, Mark Mundt, A. Christine Munk, Richard D. Nandkeshwar, Sam Pitluck, Martin Pollard, Paul Predki, B. Parson-Quintana, Lucı́a Ramı́rez, Sam Rash, James Retterer, Darrell Ricke, Donna L. Robinson, Álex Rodríguez, Asaf Salamov, Elizabeth Saunders, Duncan Scott, Timothy Shough, Raymond L. Stallings, Malinda Stalvey, Robert Sutherland, Roxanne Tapia, Judith G. Tesmer, Nina Thayer, Linda S. Thompson, Hope Tice, David C. Torney, Mary Bao Tran-Gyamfi, Ming Jer Tsai, Levy Ulanovsky, Anna Ustaszewska, Nu Vo, Paul S. White, Albert L. Williams, Patricia L. Wills, Jung-Rung Wu, Kevin Wu, Joan Yang, Pieter DeJong, David Bruce, Norman A. Doggett, Larry L. Deaven, Jeremy Schmutz, Jane Grimwood, Paul Richardson, Daniel S. Rokhsar, Evan E. Eichler, Paul Gilna, Susan Lucas, R Myers, Edward M. Rubin, L Pennacchio,

Nuclear Structure and Function

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.