The DNA sequence and biology of human chromosome 19

Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here w...

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Published in:Nature 2004-04, Vol.428 (6982), p.529-535
Main Authors: Grimwood, Jane, Rubin, Edward M, Gordon, Laurie A, Olsen, Anne, Terry, Astrid, Schmutz, Jeremy, Lamerdin, Jane, Hellsten, Uffe, Goodstein, David, Couronne, Olivier, Tran-Gyamfi, Mary, Aerts, Andrea, Altherr, Michael, Ashworth, Linda, Bajorek, Eva, Black, Stacey, Branscomb, Elbert, Caenepeel, Sean, Carrano, Anthony, Caoile, Chenier, Man Chan, Yee, Christensen, Mari, Cleland, Catherine A, Copeland, Alex, Dalin, Eileen, Dehal, Paramvir, Denys, Mirian, Detter, John C, Escobar, Julio, Flowers, Dave, Fotopulos, Dea, Garcia, Carmen, Georgescu, Anca M, Glavina, Tijana, Gomez, Maria, Gonzales, Eidelyn, Groza, Matthew, Hammon, Nancy, Hawkins, Trevor, Haydu, Lauren, Ho, Isaac, Huang, Wayne, Israni, Sanjay, Jett, Jamie, Kadner, Kristen, Kimball, Heather, Kobayashi, Arthur, Larionov, Vladimer, Leem, Sun-Hee, Lopez, Frederick, Lou, Yunian, Lowry, Steve, Malfatti, Stephanie, Martinez, Diego, McCready, Paula, Medina, Catherine, Morgan, Jenna, Nelson, Kathryn, Nolan, Matt, Ovcharenko, Ivan, Pitluck, Sam, Pollard, Martin, Popkie, Anthony P, Predki, Paul, Quan, Glenda, Ramirez, Lucia, Rash, Sam, Retterer, James, Rodriguez, Alex, Rogers, Stephanine, Salamov, Asaf, Salazar, Angelica, She, Xinwei, Smith, Doug, Slezak, Tom, Solovyev, Victor, Thayer, Nina, Tice, Hope, Tsai, Ming, Ustaszewska, Anna, Vo, Nu, Wagner, Mark, Wheeler, Jeremy, Wu, Kevin, Xie, Gary, Yang, Joan, Dubchak, Inna, Furey, Terrence S, DeJong, Pieter, Dickson, Mark, Gordon, David, Eichler, Evan E, Pennacchio, Len A, Richardson, Paul, Stubbs, Lisa, Rokhsar, Daniel S, Myers, Richard M, Lucas, Susan M
Format: Article
Language:English
Subjects:
Alternative Splicing - genetics
Animals
Base Composition
Biological and medical sciences
Chromosomes
Chromosomes, Human, Pair 19 - genetics
Classical genetics, quantitative genetics, hybrids
Comparative analysis
Conserved Sequence - genetics
CpG Islands - genetics
Deoxyribonucleic acid
DNA
Evolution, Molecular
Fundamental and applied biological sciences. Psychology
Gene Duplication
Genes - genetics
Genetics of eukaryotes. Biological and molecular evolution
Genetics, Medical
Genomics
Human
Humans
Mice
Molecular Sequence Data
Multigene Family - genetics
Physical Chromosome Mapping
Proteins
Pseudogenes - genetics
Sequence Analysis, DNA
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Summary:Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.
ISSN:0028-0836
1476-4687
DOI:10.1038/nature02399