The DNA sequence and biology of human chromosome 19

Grimwood, J; Gordon, L A; Olsen, A; Terry, A; Schmutz, J; Lamerdin, J; Hellsten, U; Goodstein, D; Couronne, O; Tran-Gyamfi, M

doi:10.1038/nature02399

The DNA sequence and biology of human chromosome 19

Journal Article · Tue Apr 06 04:00:00 EDT 2004 · Nature (London)

DOI:https://doi.org/10.1038/nature02399· OSTI ID:15014060

Grimwood, J; Gordon, L A; Olsen, A; Terry, A; Schmutz, J; Lamerdin, J; Hellsten, U; Goodstein, D; Couronne, O; Tran-Gyamfi, M

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 GC 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 hypercholesterolemia 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.

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Research Organization:: Lawrence Livermore National Laboratory (LLNL), Livermore, CA

Sponsoring Organization:: USDOE

DOE Contract Number:: W-7405-ENG-48

OSTI ID:: 15014060

Report Number(s):: UCRL-JRNL-203434

Journal Information:: Nature (London), Journal Name: Nature (London) Journal Issue: 6982 Vol. 428; ISSN NATUAS; ISSN 0028-0836

Country of Publication:: United States

Language:: English

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59 BASIC BIOLOGICAL SCIENCES
BIOLOGY
CHROMOSOMES
DNA
GENES
HUMAN CHROMOSOME 19
HUMAN CHROMOSOMES
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The DNA sequence and biology of human chromosome 19

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