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The DNA sequence and biology of human chromosome 19.

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
Nature | Apr 1, 2004

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 RIS Download

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