Linked Life Data

10386585

Source:http://linkedlifedata.com/resource/pubmed/id/10386585

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-7-12
pubmed:abstractText
Caveolin-3, a muscle-specific caveolin-related protein, is the principal structural protein of caveolae membrane domains in striated muscle cell types (cardiac and skeletal). Recently, we identified an autosomal dominant form of limb girdle muscular dystrophy in humans that is due to mutations within exon 2 of the caveolin-3 gene (3p25). However, the detailed location of the human caveolin-3 gene and its position with regard to neighboring genes remains unknown. Here, we have isolated three independent BAC clones containing the human caveolin-3 gene. Using a PCR-based approach, we determined that these clones contain both exons 1 and 2 of the human caveolin-3 gene. In addition, we performed microsatellite marker analysis of these BAC clones, using a panel of 13 markers that are known to map within the 3p25 region. Our results indicate that these BAC clones contain the following three markers: D3S18, SHGC-1079 (also known as D3S4163) and D3S4539. Interestingly, D3S18 is a marker for two known human diseases, von Hippel-Lindau disease and 3p-syndrome. As D3S4163 and D3S4539 are known to map in the vicinity of the 3' end of the human oxytocin receptor gene, we determined if these caveolin-3 positive BACs also contain the oxytocin receptor gene. We show that (i) these BACs contain all four exons of the oxytocin receptor gene and (ii) that the genes encoding caveolin-3 and the oxytocin receptor are located approximately 7-10 kb apart and in the opposite orientation. As 3p-syndrome is characterized by cardiac septal defects and caveolin-3 is expressed primarily in the heart and skeletal muscle, caveolin-3 is a candidate gene that may be deleted in 3p-syndrome.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0014-5793
pubmed:author
pubmed:issnType
Print
pubmed:day
11
pubmed:volume
452
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
177-80
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:10386585-Base Sequence, pubmed-meshheading:10386585-Caveolin 3, pubmed-meshheading:10386585-Caveolins, pubmed-meshheading:10386585-Chromosome Mapping, pubmed-meshheading:10386585-Chromosomes, Human, Pair 3, pubmed-meshheading:10386585-DNA Primers, pubmed-meshheading:10386585-Exons, pubmed-meshheading:10386585-Gene Deletion, pubmed-meshheading:10386585-Genetic Markers, pubmed-meshheading:10386585-Heart Septal Defects, pubmed-meshheading:10386585-Humans, pubmed-meshheading:10386585-Membrane Proteins, pubmed-meshheading:10386585-Microsatellite Repeats, pubmed-meshheading:10386585-Muscle, Skeletal, pubmed-meshheading:10386585-Muscle Proteins, pubmed-meshheading:10386585-Myocardium, pubmed-meshheading:10386585-Receptors, Oxytocin, pubmed-meshheading:10386585-Syndrome, pubmed-meshheading:10386585-von Hippel-Lindau Disease
pubmed:year
1999
pubmed:articleTitle
Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome.
pubmed:affiliation
Department of Molecular Pharmacology and The Albert Einstein Cancer Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't