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The DNA sequence and biology of human chromosome 19

Journal Article · · Nature (London)
OSTI ID:822966
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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 G1C 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 percent 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 percent 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, a nd segments of coding and non-coding conservation with the distant fish species Takifugu.
Research Organization:
Ernest Orlando Lawrence Berkeley National Laboratory, Berkeley, CA (US)
Sponsoring Organization:
USDOE Director. Office of Science. Biological and Environmental Research (US)
DOE Contract Number:
AC03-76SF00098
OSTI ID:
822966
Report Number(s):
LBNL--54690
Journal Information:
Nature (London), Journal Name: Nature (London) Journal Issue: 6982 Vol. 428; ISSN 0028-0836
Country of Publication:
United States
Language:
English

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Related Subjects

59 BASIC BIOLOGICAL SCIENCES
60 APPLIED LIFE SCIENCES
BIOLOGY
CHROMOSOMES
DNA
GENES
HUMAN CHROMOSOME 19
HUMAN CHROMOSOMES
ISLANDS
RODENTS