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...

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Published in:	Nature Vol. 432; no. 7020; pp. 988 - 994
Main Authors:	Lou, Yunian, Ricke, Darryl O, Caoile, Chenier, Hammon, Nancy, Bruce, David, Longmire, Jonathan L, Mark, Graham A, Lopez, Frederick, Prabhakar, Shyam, Robinson, Donna L, Fawcett, Joseph J, Wu, Jung-Rung, Hildebrand, Carl E, Parson-Quintana, Beverly, Moyzis, Robert K, Eichler, Evan E, Gomez, Maria, Pitluck, Sam, Glavina, Tijana, Mundt, Mark O, Thompson, Linda S, Black, Stacey, Goodstein, David, Rodriguez, Alex, Campbell, Connie S, Haydu, Lauren, Rash, Sam, Chan, Yee Man, Schmutz, Jeremy, Myers, Richard M, Campbell, Evelyn W, Kimball, Heather, Manohar, Chitra F, Escobar, Julio, Grimwood, Jane, Lowry, Steve, Aerts, Andrea, Gonzales, Eidelyn, Blumer, Heather, Chasteen, Leslie A, Kobayashi, Arthur, Predki, Paul, Goodwin, Lynne A, Israni, Sanjay, Sutherland, Robert D, Clark, Lynn M, DeJong, Pieter, Stallings, Raymond L, Xie, Gary, Chertkov, Olga, Detter, John C, Stalvey, Malinda, Callen, David F, Doggett, Norman A, Richardson, Paul, Challacombe, Jean F, Fotopulos, Dea, Meincke, Linda J, Torney, David C, Tran-Gyamfi, Mary, Cohn, Judith D, McMurray, Kimberly L, Deaven, Larry, Pollard, Martin, Scott, Duncan, Brown, Nancy C, Campbell, Mary L, Ustaszewska, Anna, Salamov, Asaf, Jett, Jamie, Jewett, Phillip B, Nandkeshwar, Richard D, Lucas, Susan M, Retterer, James, Rokhsar, Daniel S, Wills, Patricia L, Williams, Albert L, Grady, Deborah L, Ludeman, Thom, Flowers, Dave, She, Xinwei, Groza, Matthew, Saunders, Elizabeth H, Gordon, Laurie A, Denys, Mirian, Altherr, Michael, Huang, Wayne, Tice, Hope, Pennacchio, Len A, Kadner, Kristen, Han, Cliff, Tesmer, Judith G, Dickson, Mark, Grigoriev, Igor, Hellsten, Uffe, Tsai, Ming, Leyba, Tina, Martin, Joel, Bajorek, Eva, Shough, Timothy
Format:	Journal Article
Language:	English
Published:	London Nature Publishing 23-12-2004 Nature Publishing Group
Subjects:	Animals Biological and medical sciences Chromatin. Chromosome Chromosomes Chromosomes, Human, Pair 16 - genetics Evolution Fundamental and applied biological sciences. Psychology Gene Duplication Genes - genetics Genetics Genomics Heterochromatin - genetics Humans Leukemia Molecular and cellular biology Molecular genetics Molecular Sequence Data Physical Chromosome Mapping Polymorphism, Genetic - genetics Primates Sequence Analysis, DNA Synteny - genetics Human Chromosome E16 Nucleotide sequence Physical map
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Summary:	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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 USDOE Office of Science (SC), Biological and Environmental Research (BER)
ISSN:	0028-0836 1476-4687
DOI:	10.1038/nature03187