Linked Life Data

9758703

Source:http://linkedlifedata.com/resource/pubmed/id/9758703

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1998-10-28
pubmed:abstractText
The heart defect (hdf) mouse is a recessive lethal that arose from a transgene insertional mutation on chromosome 13. Embryos homozygous for the transgene die in utero by embryonic day 10.5 postcoitus and exhibit specific defects along the anterior-posterior cardiac axis. The future right ventricle and conus/truncus of the single heart tube fail to form and the endocardial cushions in the atrioventricular and conus/truncus regions are absent. Because the hdf mouse mutation provided the opportunity to identify a gene required for endocardial cushion formation and for specification or maintenance of the anterior most segments of the heart, we initiated studies to further characterize the phenotype, clone the insertion site, and identify the gene disrupted. Chromosome mapping studies first identified the gene, Cspg2 (versican), as a candidate hdf gene. In addition, an antibody recognizing a glycosaminoglycan epitope on versican was found to be positive by immunohistochemistry in the extracellular matrix of normal wild-type embryonic hearts, but absent in homozygous hearts. Expression analysis of the Cspg2 gene showed that the 6/8, 6/9, and 7/9 Cspg2 exon boundaries were present in mRNA of normal wild-type embryonic hearts but absent in the homozygous mutant embryos. DNA sequence flanking the transgene was used to isolate from a normal mouse library overlapping genomic DNA segments that span the transgene insertion site. The contiguous genomic DNA segment was found to contain exon 7 of the Cspg2 in a position 3' to the transgene insertion site. These four separate lines of evidence support the hypothesis that Cspg2 is the gene disrupted by the transgene insertion in the hdf mouse line. The findings of this study and our previous studies of the hdf insertional mutant mouse have shown that normal expression of the Cspg2 gene is required for the successful development of the endocardial cushion swellings and the embryonic heart segments that give rise to the right ventricle and conus/truncus in the outlet of the looped heart.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0012-1606
pubmed:author
pubmed:copyrightInfo
Copyright 1998 Academic Press.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
202
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
56-66
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:9758703-Alternative Splicing, pubmed-meshheading:9758703-Animals, pubmed-meshheading:9758703-Cardiac Myosins, pubmed-meshheading:9758703-Chondroitin Sulfate Proteoglycans, pubmed-meshheading:9758703-Chromosome Mapping, pubmed-meshheading:9758703-Cloning, Molecular, pubmed-meshheading:9758703-Endocardium, pubmed-meshheading:9758703-Genes, pubmed-meshheading:9758703-Heart, pubmed-meshheading:9758703-Lectins, C-Type, pubmed-meshheading:9758703-Mice, pubmed-meshheading:9758703-Mice, Mutant Strains, pubmed-meshheading:9758703-Mice, Transgenic, pubmed-meshheading:9758703-Morphogenesis, pubmed-meshheading:9758703-Mutagenesis, Insertional, pubmed-meshheading:9758703-Myocardium, pubmed-meshheading:9758703-Myosin Light Chains, pubmed-meshheading:9758703-RNA, Messenger, pubmed-meshheading:9758703-Restriction Mapping, pubmed-meshheading:9758703-Sequence Analysis, DNA, pubmed-meshheading:9758703-Versicans
pubmed:year
1998
pubmed:articleTitle
The Cspg2 gene, disrupted in the hdf mutant, is required for right cardiac chamber and endocardial cushion formation.
pubmed:affiliation
Department of Cell Biology and Anatomy, Medical University of South Carolina, 171 Ashley Avenue, Charleston, South Carolina, 29425, USA. mjaatvch@musc.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.