title: Single-strand conformation polymorphism analysis of human decorin, biglycan and fibromodulin cDNAs.
abstract: The coding regions of the human decorin, biglycan and fibromodulin cDNAs have been examined utilizing the method of single-strand conformation polymorphism analysis. Analysis of total RNA from a group of eight human skin fibroblast cell lines did not detect any sequence variations in the decorin cDNA. In contrast, the analysis detected three sequence variations in the biglycan cDNA and one in the fibromodulin cDNA from the same group of cell lines. For the biglycan cDNA, one variation involved a position in the 5'-untranslated region, while the other two affected the wobble bases of triples encoding serine residues 10 and 143 of the mature core protein. For the fibromodulin cDNA, the variation involved the wobble position of the codon for glutamic acid residue 61 of the putative mature core protein. Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of connective tissue pathologies, including chondrodysplasia punctata, Desbuquois syndrome, Dyggve-Melchior-Clausen syndrome, dyssegmental dysplasia, Ehlers-Danlos syndrome types I and III, Ellis van Creveld syndrome and thanatophoric dysplasia, though no additional sequence variations were detected.
authors: Genetics Unit, Shriners Hospital for Crippled Children, Montreal, Canada.
authors: R
authors: R
authors: Sztrolovics
authors: D L
authors: DL
authors: Rimoin
authors: E
authors: E
authors: Rodriguez
authors: R J
authors: RJ
authors: Roughley
mesh_terms: D001483:Base Sequence; D058578:Biglycan; D002352:Carrier Proteins / Q000235:genetics*; D002478:Cells, Cultured; D003240:Connective Tissue Diseases / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics*; D058575:Decorin; D016326:Extracellular Matrix Proteins; D005347:Fibroblasts; D000071235:Fibromodulin; D006801:Humans; D008969:Molecular Sequence Data; D018807:Polymorphism, Single-Stranded Conformational; D011509:Proteoglycans / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics
chemical_list: C546884:BGN protein, human; D058578:Biglycan; D002352:Carrier Proteins; C546878:DCN protein, human; D018076:DNA, Complementary; D058575:Decorin; D016326:Extracellular Matrix Proteins; C000604330:FMOD protein, human; D011509:Proteoglycans; D012333:RNA, Messenger; D000071235:Fibromodulin