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The sequence and analysis of duplication rich human chromosome 16 (2004) |
- Martin, Joel,
- Han, Cliff,
- Gordon, Laurie A.,
- Terry, Astrid,
- Prabhakar, Shyam,
- She, Xinwei,
- Xie, Gary,
- Hellsten, Uffe,
- Man Chan, Yee,
- 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 E.,
- Kadner, Kristen,
- Kimball, Heather,
- Kobayashi, Arthur,
- Krawczyk, Marie-Claude,
- Leyba, Tina,
- Longmire, Jonathan L.,
- Lopez, Frederick,
- Lou, Yunian,
- Lowry, Steve,
- Ludeman, Thom,
- 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,
- 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.
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Abstract |
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We report here the 78,884,754 base pairs of finished human chromosome 16 sequence, representing over 99.9 percent of its euchromatin. Manual annotation revealed 880 protein coding genes confirmed by 1,637 aligned transcripts, 19 tRNA genes, 341 pseudogenes and 3 RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukemia. Several large-scale structural polymorphisms spanning hundreds of kilobasepairs were identified and result in gene content differences across humans. One of the unique features of chromosome 16 is its high level of segmental duplication, ranked among the highest of the human autosomes. While the segmental duplications are enriched in the relatively gene poor pericentromere of the p-arm, some are involved in recent gene duplication and conversion events which are likely to have had an impact on the evolution of primates and human disease susceptibility. |
Publication details |
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Cited publications (10) |
An integrated physical map of human chromosome 16 (1995)
- Doggett, N. A.,
- Goodwin, L. A.,
- Tesmer, J. G.,
- Meincke, L. J.,
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- Lowenstein, N. G.,
- Sutherland, G. R.,
- Mundt, M. O.,
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A 12-Mb Complete Coverage BAC Contig Map in Human Chromosome 16p13.1–p11.2
- Cao, Yicheng,
- Kang, Hyung Lyun,
- Xu, Xuequn,
- Wang, Mei,
- Dho, So Hee,
- Huh, Jun Ryul,
- Lee, Byeong-Jae,
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- Baldini, Antonio,
- Weier, Heinz-Ulrich,
- Doggett, Norman A.,
- Simon, Melvin I.,
- Adams, Mark D.,
- Kim, Ung-Jin
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A Bacterial Artificial Chromosome Library for Sequencing the Complete Human Genome
- Osoegawa, Kazutoyo,
- Mammoser, Aaron G.,
- Wu, Chenyan,
- Frengen, Eirik,
- Zeng, Changjiang,
- Catanese, Joseph J.,
- De Jong, Pieter J.
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Comprehensive human genetic maps: individual and sex-specific variation in recombination.
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tRNAscan-SE: a program for improved detection of transfer RNA genes in genomic sequence.
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Millions of Years of Evolution Preserved: A Comprehensive Catalog of the Processed Pseudogenes in the Human Genome
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BLAT—The BLAST-Like Alignment Tool
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Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p (2003)
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- Hearn, Tom,
- Crosier, Moira,
- Mudge, Jonathan,
- Viggiano, Luigi,
- Koczan, Dirk,
- Thiesen, Hans-Jurgen,
- Bailey, Jeffrey A.,
- Horvath, Julie E.,
- Eichler, Evan E.,
- Earthrowl, Mark E.,
- Deloukas, Panos,
- French, Lisa,
- Rogers, Jane,
- Bentley, David,
- Jackson, Michael S.
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