title: Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias.
abstract: The chondrodysplasias are characterised by the abnormal development of articulating joints and bone. Mutations in the COL2A1 and COL10A1 genes, which encode the cartilage collagens type II and type X, have been identified in a variety of inherited chondrodysplasias. However, both genes have also been excluded as the mutant loci in several chondrodysplasia pedigrees, indicating the existence of at least one other chondrodysplasia locus. We report the exclusion of the genes encoding two cartilage-specific proteins, the cartilage link protein and the cartilage matrix protein, in several chondrodysplasia pedigrees in which COL2A1 had previously been excluded as the mutant locus.
authors.affiliation: University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
authors.forename: J
authors.initials: J
authors.lastname: Loughlin
authors.forename: C
authors.initials: C
authors.lastname: Irven
authors.forename: B
authors.initials: B
authors.lastname: Sykes
mesh_terms: D064236:Cartilage Oligomeric Matrix Protein; D004276:DNA, Satellite / Q000032:analysis; D016326:Extracellular Matrix Proteins; D008040:Genetic Linkage; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D064235:Matrilin Proteins; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D011509:Proteoglycans; D011995:Recombination, Genetic; D000099249:Proteoglycan Link Protein
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D004276:DNA, Satellite; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; D011506:Proteins; D011509:Proteoglycans; D000099249:Proteoglycan Link Protein; C577553:TSP5 protein, human