Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

Nature Genetics

Volumn 23, Issue 1, 1999, Pages 94-98

  Hurvitz, Jennifer R ^a   Suwairi, Wafaa M ^a,b,c   Van Hul, Wim ^d   El Shanti, Hatem ^e   Superti Furga, Andrea ^f   Roudier, Jean ^g   Holderbaum, Daniel ^h   Pauli, Richard M ⁱ   Herd, J Kenneth ^j   Van Hul, Els ^d   Rezai Delui, Hossien ^k   Legius, Eric ^l   Le Merrer, Martine ^m   Al Alami, Jamil ^e   Bahabri, Sultan A ^c   Warman, Matthew L ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^c KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

^f UNIVERSITY OF ZURICH   (Switzerland)

^g INSERM   (France)

^h UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

ⁱ UNIVERSITY OF WISCONSIN MADISON   (United States)

^j EAST TENNESSEE STATE UNIVERSITY   (United States)

^k Ghaen Hospital   (Iran)

^l UNIVERSITY OF LEUVEN   (Belgium)

^m HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL DIFFERENTIATION; CELL GROWTH; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENE SEQUENCE; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDORHEUMATOID DYSPLASIA; SYMPTOMATOLOGY;

EID: 0032819849     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/12699     Document Type: Article

References (33)

1. Bork, P. The modular architecture of a new family of growth regulators related to connective tissue growth factor. FEBS Lett. 327, 125-130 (1993).
2. El-Shanti, H.E., Omari, H.Z. & Qubain, H.I. Progressive pseudorheumatoid dysplasia: report of a family and review. J. Med. Genet. 34, 559-563 (1997).
3. Rezai-Delui, H., Mamoori, G., Sadri-Mahvelatie, E. & Noori, N.M. Progressive pseudorheumatoid chondrodysplasia: a report of nine cases in three families. Skeletal Radiol. 23, 411-419 (1994).
4. Wynne-Davies, R., Hall, C. & Ansell, B.M. Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance. J. Bone Joint Surg. Br. 64, 442-445 (1982).
5. Spranger, J., Albert, C., Schilling, F., Bartsocas, C. & Stöss, H. Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. Eur. J. Pediatr. 140, 34-40 (1983).
6. Teebi, A.S. & Al-Awadi, S.A. Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. J. Med. Genet. 23, 189-191 (1986).
7. Kozlowski, K., Kennedy, J. & Lewis, I.C. Radiographic features of progressive pseudorheumatoid arthritis. Australas. Radiol. 30, 244-250 (1986).
8. El-Shanti, H. et al. Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. Eur. J. Hum. Genet. 6, 251-256 (1998).
9. Fischer, J. et al. Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22. Hum. Genet. 103, 60-64 (1998).
10. Pennica, D. et al. WISP genes are members of the connective tissue growth factor family that are up-regulated in Wnt-1-transformed cells and aberrantly expressed in human colon tumors. Proc. Natl Acad. Sci. USA 95, 14717-14722 (1998).
11. O'Brien, T.P., Yang, G.P., Sanders, L. & Lau, L.F. Expression of cyr61, a growth factor-inducible immediate-early gene. Mol. Cell. Biol. 10, 3569-3577 (1990).
12. Ryseck, R.-P., Macdonald-Bravo, H., Mattel, M.-G. & Bravo, R. Structure, mapping, and expression of fisp-12, a growth factor-inducible gene encoding a secreted cysteine-rich protein. Cell Growth Differ. 2, 225-233 (1991).
13. Bradham, D.M., Igarashi A., Potter, R.L. & Grotendorst, G.R. Connective tissue growth factor: a cysteine-rich mitogen secreted by human vasular endothelial cells is related to the SRC-induced immediate early gene product CEF-10. J. Cell Biol. 114, 1285-1294 (1991).
14. Joliot, V. et al. Proviral rearrangements and overexpression of a new cellular gene (nov) in myeloblastosis-associated virus type 1-induced nephroblastomas. Mol. Cell. Biol. 12, 10-21 (1992).
15. Zhang, R. et al. Identification of rCop-1, a new member of the CCN protein family, as a negative regulator for cell transformation. Mol. Cell. Biol. 18, 6131-6141 (1998).
16. Hashimoto, Y. et al. Expression of the Elm1 gene, a novel gene of the CCN (connective tissue growth factor, Cyr61/Cef10, and neuroblastoma overexpressed gene) family, suppresses in vivo tumor growth and metastasis of K-1735 murine melanoma cells. J. Exp. Med. 187, 289-296 (1998).
17. Yang, G.P. & Lau, L.F. Cyr61, product of a growth factor-inducible immediate early gene, is associated with the extracellular matrix and the cell surface. Cell Growth Differ. 2, 351-357 (1991).
18. O'Brien, T.P. & Lau, L.F. Expression of the growth factor-inducible immediate early gene cyr61 correlates with chondrogenesis during mouse embryonic development. Cell Growth Differ. 3, 645-654 (1992).
19. Kireeva, M.L., Mo, F., Yang, G.P. & Lau, L.F. Cyr61, a product of a growth factor-inducible immediate-early gene, promotes cell proliferation, migration, and adhesion. Mol. Cell. Biol. 16, 1326-1334 (1996).
20. Martinerie, C., Chevalier, G., Rauscher, F.J. III & Perbal, B. Regulation of nov by WT1: a potential role for nov in nephrogenesis. Oncogene 12, 1479-1492 (1996).
21. Wong, M., Kireeva, M.L., Kolesnikova, T.V. & Lau, L.F. Cyr61, a product of a growth factor-inducible immediate-early gene, regulates chondogenesis in mouse limb bud mesenchymal cells. Dev. Biol. 192, 492-508 (1997).
22. Grotendorst, G.R. Connective tissue growth factor: a mediator of TGF-β action on fibroblasts. Cytokine Growth Factor Rev. 8, 171-179 (1997).
23. Kothapalli, D., Frazier, K.S., Welply, A., Segarini, P.R. & Grotendorst, G.R. Transforming growth factor B induces anchorage-independent growth of NRK fibroblasts via a connective tissue growth factor-dependent signaling pathway. Cell Growth Differ. 8, 61-68 (1997).
24. 3 responsive immediate early gene in human fetal osteoblasts: regulation by cytokines, growth factors, and serum. Endocrinology 139, 1761-1770 (1998).
25. Erlebacher, A., Filvaroff, E.H., Gitelman, S.E. & Derynck, R. Toward a molecular understanding of skeletal development. Cell 80, 371-378 (1995).
26. Brigstock, D.R. et al. Purification and characterization of novel heparin-binding growth factors in uterine secretory fluids. J. Biol. Chem. 272, 20275-20282 (1997).
27. Dale, T.C. Signal transduction by the Wnt family of ligands. Biochem. J. 329, 209-223 (1998).
28. Parr, B.A., Avery, E.J., Cygan, J.A. & McMahon, A.P. The classical mouse mutant postaxial hemimelia results from a mutation in the Wnt 7a gene. Dev. Biol. 202, 228-234 (1998).
29. Yoo, J.U. et al. The chondrogenic potential of human bone-marrow-derived mesenchymal progenitor cells. J. Bone Joint Surg. Am. 80, 1745-1757 (1998).
30. Legius, E., Mulier, M., Van Damme, B. & Fryns, J.P. Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height. Clin. Genet. 44, 152-155 (1993).
31. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403-410 (1990).
32. Vikkula, M. et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80, 431-437 (1995).
33. Carrel, L. et al. X inactiviation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. Hum. Mol. Genet. 5, 391-401 (1996).