Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Nature Genetics

Volumn 10, Issue 3, 1995, Pages 330-336

  Briggs, M D ^a,b   Hoffman, S M G ^c   King, L M ^a   Olsen, A S ^c   Mohrenweiser, H ^c   Leroy, J G ^d   Mortier, G R ^d   Rimoin, D L ^a,b   Lachman, R S ^b   Gaines, E S ^e   Cekleniak, J A ^e   Knowlton, R G ^e   Cohn, D H ^a,b  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

^d GHENT UNIVERSITY   (Belgium)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MATRIX PROTEIN;

ACHONDROPLASIA; ARTICLE; BONE DYSPLASIA; CALCIUM BINDING; CARTILAGE; CHROMOSOME 19; DWARFISM; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN TISSUE; OSTEOARTHRITIS; PRIORITY JOURNAL; SHORT STATURE;

ACHONDROPLASIA; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM; CALMODULIN; CARTILAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; DNA, SATELLITE; EPIDERMAL GROWTH FACTOR; FEMALE; GENES, DOMINANT; GLYCOPROTEINS; HUMAN; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPETITIVE SEQUENCES, NUCLEIC ACID; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, NON-P.H.S.; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0029070079     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0795-330     Document Type: Article

References (37)

1. International Working Group on Constitutional Diseases of Bone. International classification of osteochondrodysplasias. Am. J. med. Genet. 44, 223-229 (1992).
2. Maroteaux, P., Stanescu, R., Stanescu, V. & Fontaine, G. The mild form of pseudoachondroplasia. Eur. J. Pediatr. 133, 227-231 (1980).
3. Rimoin, D. L. et al. A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. Hum. Genet. 93, 236-242 (1994).
4. Ribbing, S. Studien über hereditäre multiple Epiphysenstörungen. Acta. Radiol. Suppl. 34, 1-107 (1937).
5. Maroteaux, P. & Lamy, M. Les formes pseudoachondroplastiques des dysplasies spondylo-epiphysaires. Presse Med. 67, 383-386 (1959).
6. Fairbank, T. Dysplasia epiphysialis multiplex. Br. J. Surg. 34, 225-232 (1947).
7. Maynard, J. A., Cooper, R. R. & Ponseti, I. V. A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. Lab. Invest. 26, 40-44 (1972).
8. Stanescu, V., Stanescu, R. & Maroteaux, P. Etude morphologique et biochimique du cartilage de croissance dans les osteochondrodysplasies. Arch. Franc. Pediatr. 34, 1-80 (1977).
9. Stanescu, R., Stanescu, V., Muriel, M. P. & Maroteaux, P. Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage. Am. J. med. Genet. 45, 501-507 (1993).
10. Stanescu, V., Maroteaux, P. & Stanescu, R. The biochemical defect of pseudoachondroplasia. Eur. J. Pediatr. 138, 221-225 (1982).
11. Briggs, M. D. et al. Genetic linkage of pseudoachondroplasia to markers in the pericentromeric region of chromosome 19. Genomics. 18, 656-660 (1993).
12. Hecht, J. T. et al. Linkage of typical pseudoachondroplasia to chromosome 19. Genomics 18, 661-666 (1993).
13. Oehlmann, R., Summerville, G. P., Yeh, G., Weaver, E. J., Jiminez, S. A. & Knowlton, R. G. Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. Am. J. hum. Genet. 54, 3-10 (1994).
14. Briggs, M. D. et al. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Am. J. hum. Genet. 55, 678-684 (1994).
15. Warman, M. L. et al. The genes encoding a2(IX) collagen (COL9A2) map to human chromosome 1 p32. 2-p33 and mouse chromosome 4. Genomics 23, 158-162 (1994).
16. Hellsten, E. et al. Identification of YAC clones for human chromosome 1 p32 and physical mapping of the infantile neuronal ceroid lipofuscinosos (INCL) locus. Genomics 25, 404-412 (1995).
17. Deere, M. et al. Genetic heterogeneity in multiple epiphyseal dysplasia. Am. J. hum. Genet. 56, 698-704 (1995).
18. Knowlton, R. G. et al. High resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13. 1-p12. Genomics. (in the press).
19. Hedbom, E. et al. Cartilage matrix proteins. J. biol. Chem. 267, 6132-6136 (1992).
20. Newton, G. et al. Characterization of human and mouse cartilage oligomeric matrix protein. Genomics 24, 435-439 (1994).
21. Tynan, K. et al. Organization of the multiple polymorphic sites of the D19S11 locus within a 650-kb cosmid contig. Genomics 17, 316-323 (1993).
22. Brandriff, B. F. et al. Human chromosome 19p: A fluorescence in situhybridization map with genomic distance estimates for 79 intervals spanning 20Mb. Genomics 23, 582-591 (1994).
23. Bomstein, P., Devarayalu, S., Edelhoff, S. & Disteche, C. M. Isolation and characterization of the mouse thrombospondins (Thbs3) gene. Genomics15, 607-613 (1993).
24. Lawler, J. & Hynes, R. O. The structure of human thrombospondin, an adhesive glycoprotein with multiple calcium-binding sites and homologies with several different proteins. J. Cell Biol. 103, 1635-1648 (1986).
25. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Detection of polymorphisms of human DMA by gel etectrophoresis as single-stranded conformation polymorphisms. Proc. natn. Acad. Sci. U. S. A. 86, 2766-2770 (1989).
26. Morgelin, M., Heinegard, D., Engel, J. & Paulsson, M. Electron microscopy of native cartilage oligomeric matrix protein purified from the swarm rat chondrosarcoma reveals a five-armed structure. J. biol. Chem. 267, 6137-6141 (1992).
27. Oldberg, Å., Antonsson, P., Lindblom, K. & Heinegard, D. COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins. J. biol. Chem. 267, 22346-22350 (1992).
28. Efimov, V. P., Lustig, A. & Engel, J. The thrombospondin-like chains of cartilage oligomeric matrix protein are assembled by a five-stranded a-helical bundle between residues 20 and 83. FEBS Lett. 341, 54-58 (1994).
29. Bornstein, P. Thrombospondins: structure and regulation of expression. FASEB J. 6, 3290-3299 (1992).
30. Takagi, J., Fujisawa, T., Usui, T., Aoyoma, T., & Saito, Y. A single chain 19-kDa fragmant from bovine thrombospondin binds to type V collagen and heparin. J. biol. Chem. 268, 15544-15549 (1993).
31. Mumby, S. M., Raugi, C. J. & Bornstein, P. Interactions of thrombospondin with extracellular matrix proteins: selective binding to type V collagen. J. Cell Biol. 98, 646-652 (1984).
32. Lahav, J., Schwartz, M. A. & Hynes, R. O. Analysis of platelet adhesion with a radioactive chemical crosslinking reagent: interaction of thrombospondin with flbronectin and collagen. Cell 31, 253-262 (1982).
33. Dixit, V. M., Hennessy, S. W., Grant, G. A., Santoro, S. A. & Frazier, W. A. Isolation and characterization of a heparin-binding domain from the amino terminus of platelet thrombospondin. J. biol. Chem. 259, 10100-10105 (1984).
34. Klee, C. B., Couch, T. H. & Richmond, P. G. Calmodulin. A Rev. Biochem. 49, 489-515 (1980).
35. DiCesare, P., Hauser. N., Lehman, D., Pasumarti, S. & Paulsson, M. Cartilage oligomeric matrix protein is an abundant component of tendon. FEBS Lett. 354, 237-240 (1994).
36. Hall, J. G., Dorst, J. P., Rotta, J. & McKusick, V. A. Gonadal mosaicism in pseudoachondroplasia. Am. J. hum. Genet. 28, 143-151 (1987).
37. Lathrop, G. M., Lalouel, J. M., Julier, C. & Ott, J. Muttitocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. hum. Genet. 37, 482-498 (1985).