The DNA sequence and biology of human chromosome 19
Grimwood, Gordon, Olsen, Terry, Schmutz, Lamerdin, Hellsten, Goodstein, Couronne, Tran-Gyamfi, Aerts, Altherr, Ashworth, Bajorek, Black, Branscomb, Caenepeel, Carrano, Caoile, Chan, Christensen, Cleland, Copeland, Dalin, Dehal, Denys, Detter, Escobar, Flowers, Fotopulos, Garcia, Georgescu, Glavina, Gomez, Gonzales, Groza, Hammon, Hawkins, Haydu, Ho, Huang, Israni, Jett, Kadner, Kimball, Kobayashi, Larionov, Leem, Lopez, Lou, Lowry, Malfatti, Martinez, McCready, Medina, Morgan, Nelson, Nolan, Ovcharenko, Pitluck, Pollard, Popkie, Predki, Quan, Ramirez, Rash, Retterer, Rodriguez, Rogers, Salamov, Salazar, She, Smith, Slezak, Solovyev, Thayer, Tice, Tsai, Ustaszewska, Vo, Wagner, Wheeler, Wu, Xie, Yang, Dubchak, Furey, DeJong, Dickson, Gordon, Eichler, Pennacchio, Richardson, Stubbs, Rokhsar, Myers, Rubin, Lucas (2004) The DNA sequence and biology of human chromosome 19 Nature (IF: 50.5) 428(6982) 529-35Abstract
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.
Links
http://www.ncbi.nlm.nih.gov/pubmed/15057824http://dx.doi.org/10.1038/nature02399
