Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein
Slavovic Susic
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Search for more papers by this authorJanet Ahier
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Search for more papers by this authorCorresponding Author
William G. Cole
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada. Fax: 416-813-6414Search for more papers by this authorSlavovic Susic
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Search for more papers by this authorJanet Ahier
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Search for more papers by this authorCorresponding Author
William G. Cole
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada. Fax: 416-813-6414Search for more papers by this author
References
- Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al. (1995) Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nature Genet 10: 330–336.
- Chan D, Cole WG (1991) Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells — Application to the characterization of a glycine 997 to serine substitution in α1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. J Biol Chem 266: 12487–12494.
- DiCesare PE, Morgelin M, Mann K, Paulsson M (1994) Cartilage oligomeric matrix protein and thrombospondin 1. Purification from articular cartilage, electron microscopic structure, and chondrocyte binding. Eur J Biochem 223: 927–937.
- DiCesare PE, Morgelin M, Carlson CS, Pasumarti S, Paulsson M (1995) Cartilage oligomeric matrix protein: Isolation and characterization from human articular cartilage. J Orthop Res 13: 422–428.
- Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, et al. (1995) Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nature Genet 10: 325–329.
- Hedbom E, Antonsson P, Hjerpe A, Aeschlimann D, Paulsson M, Rosa-Pimentel E, Sommarin Y, Wendel M, Oldberg A, Heinegard D (1992) Cartilage matrix proteins. An acidic oligomeric protein (COMP) detected only in cartilage. J Biol Chem 267: 6132–6136.
- Horton WA, Hall JG, Scott CI, Pyeritz RE, Rimoin DL (1982) Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Am J Dis Child 136: 316–319.
- Khorana S, Gagel RF, Cote GJ (1994) Direct sequencing of PCR products in agarose gel slices. Nucleic Acids Res 22: 3425–3426.
- Lawler J, Simons E (1983) Cooperative binding of calcium to thrombospondin-1. J Biol Chem 258: 12098–12101.
- Newton G, Weremowicz S, Morton CC, Copeland NG, Gilbert DJ, Jenkins NA, Lawler J (1994) Characterization of human and mouse cartilage oligomeric matrix protein. Genomics 24: 435–439.
- Oldberg A, Antonsson P, Lindblom K, Heinegard D (1992) COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins. J Biol Chem 267: 22346–22350.
- Wynne-Davies R, Hall CM, Young ID (1986) Pseudoachondroplasia: Clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). J Med Genet 23: 425–434.
