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Pubmed ID :15616553
Publication Date : //

The sequence and analysis of duplication-rich human chromosome 16.


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.

Authors : 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 ,

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