The DNA sequence and biology of human chromosome 19

• 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; Fish conservation; Fundamental and applied biological sciences. Psychology; Gene Duplication; Genes - genetics; Genetics of eukaryotes. Biological and molecular evolution; Genetics, Medical; Genomics; Human; Humanities and Social Sciences; Humans; Mice; Molecular Sequence Data; multidisciplinary; Multigene Family - genetics; Physical Chromosome Mapping; Proteins; Pseudogenes - genetics; Science; Science (multidisciplinary); Sequence Analysis, DNA
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/nature02399

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 .