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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 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.

Pubmed ID: 15057824

Authors

  • Grimwood J
  • Gordon LA
  • Olsen A
  • Terry A
  • Schmutz J
  • Lamerdin J
  • Hellsten U
  • Goodstein D
  • Couronne O
  • Tran-Gyamfi M
  • Aerts A
  • Altherr M
  • Ashworth L
  • Bajorek E
  • Black S
  • Branscomb E
  • Caenepeel S
  • Carrano A
  • Caoile C
  • Chan YM
  • Christensen M
  • Cleland CA
  • Copeland A
  • Dalin E
  • Dehal P
  • Denys M
  • Detter JC
  • Escobar J
  • Flowers D
  • Fotopulos D
  • Garcia C
  • Georgescu AM
  • Glavina T
  • Gomez M
  • Gonzales E
  • Groza M
  • Hammon N
  • Hawkins T
  • Haydu L
  • Ho I
  • Huang W
  • Israni S
  • Jett J
  • Kadner K
  • Kimball H
  • Kobayashi A
  • Larionov V
  • Leem SH
  • Lopez F
  • Lou Y
  • Lowry S
  • Malfatti S
  • Martinez D
  • McCready P
  • Medina C
  • Morgan J
  • Nelson K
  • Nolan M
  • Ovcharenko I
  • Pitluck S
  • Pollard M
  • Popkie AP
  • Predki P
  • Quan G
  • Ramirez L
  • Rash S
  • Retterer J
  • Rodriguez A
  • Rogers S
  • Salamov A
  • Salazar A
  • She X
  • Smith D
  • Slezak T
  • Solovyev V
  • Thayer N
  • Tice H
  • Tsai M
  • Ustaszewska A
  • Vo N
  • Wagner M
  • Wheeler J
  • Wu K
  • Xie G
  • Yang J
  • Dubchak I
  • Furey TS
  • DeJong P
  • Dickson M
  • Gordon D
  • Eichler EE
  • Pennacchio LA
  • Richardson P
  • Stubbs L
  • Rokhsar DS
  • Myers RM
  • Rubin EM
  • Lucas SM

Journal

Nature

Publication Data

April 1, 2004

Associated Grants

None

Mesh Terms

  • Alternative Splicing
  • Animals
  • Base Composition
  • Chromosomes, Human, Pair 19
  • Conserved Sequence
  • CpG Islands
  • Evolution, Molecular
  • Gene Duplication
  • Genes
  • Genetics, Medical
  • Humans
  • Mice
  • Molecular Sequence Data
  • Multigene Family
  • Physical Chromosome Mapping
  • Pseudogenes
  • Sequence Analysis, DNA