Linked Life Data

9107679

Source:http://linkedlifedata.com/resource/pubmed/id/9107679

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1997-6-12
pubmed:databankReference
pubmed:abstractText
The alpha1(VI) and alpha2(VI) chains of type VI collagen (nonfibrillar) are highly similar and are encoded by single-copy genes in close proximity on human Chromosome (Chr) 21q22.3, a gene-rich region that has proved refractory to cloning. For the alpha1(VI) chain, only the regions encoding the triple-helical and the promoter have been characterized hitherto.To facilitate our study of the role of this gene in the phenotype of Down syndrome, we have cloned and sequenced the amino- and carboxyl-terminal globular domains of COL6A1. The amino-terminal domain consists of seven exons and the carboxyl-terminal globular domain of nine exons. Together with the exons of the triple-helical domain, COL6A1 is encoded by a total of 36 exons spanning approximately 30 kb. Comparison of the genomic organization of COL6A1 and COL6A2 revealed that despite the similarity within their triple-helical domains, the intron-exon structures of their globular domains differ markedly. Conservation is limited to the exons encoding amino acids immediately adjacent to the triple-helical region, including the cysteine residues essential for the structure of mature collagen VI. The intron-exon structures of these two genes are highly similar to the collagen VI genes of chicken. These data suggest that COL6A1 and COL6A2 arose from a gene duplication before the divergence of the reptilian and mammalian lineages.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0938-8990
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
342-5
pubmed:dateRevised
2009-11-3
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2.
pubmed:affiliation
Academic Unit of Medical and Community Genetics (Imperial College School of Medicine), Kennedy Galton Centre, Level 8V, Northwick Park and St Mark's NHS Trust, Harrow HA1 3UJ, England, UK.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't