Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene (original) (raw)

References

1. Noonan, D.M. et al. The complete sequence of perlecan, a basement membrane heparan sulfate proteoglycan, reveals extensive similarity with laminin A chain, low density lipoprotein-receptor, and the neural cell adhesion molecule. J. Biol. Chem. 266, 22939–22947 (1991).
   CAS PubMed Google Scholar
2. SundarRaj, N., Fite, D., Ledbetter, S., Chakravarti, S. & Hassell, J.R. Perlecan is a component of cartilage matrix and promotes chondrocyte attachment. J. Cell Sci. 108, 2663–2672 (1995).
   CAS PubMed Google Scholar
3. Aviezer, D. et al. Perlecan, basal lamina proteoglycan, promotes basic fibroblast growth factor-receptor binding, mitogenesis, and angiogenesis. Cell 79, 1005–1013 (1994).
   Article CAS PubMed Google Scholar
4. Iozzo, R.V., Cohen, I.R., Grassel, S. & Murdoch, A.D. The biology of perlecan: the multifaceted heparan sulphate proteoglycan of basement membranes and pericellular matrices. Biochem. J. 302, 625–639 (1994).
   Article CAS PubMed PubMed Central Google Scholar
5. Perrimon, N. & Bernfield, M. Specificities of heparan sulphate proteoglycans in developmental processes. Nature 404, 725–728 (2000).
   Article CAS PubMed Google Scholar
6. Arikawa-Hirasawa, E., Watanabe, H., Takami, H., Hassell, J.R. & Yamada, Y. Perlecan is essential for cartilage and cephalic development. Nature Genet. 23, 354–358 (1999).
   Article CAS PubMed Google Scholar
7. Costell, M. et al. Perlecan maintains the integrity of cartilage and some basement membranes. J. Cell Biol. 147, 1109–1122 (1999).
   Article CAS PubMed PubMed Central Google Scholar
8. Aleck, K.A. et al. Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity. Am. J. Med. Genet. 27, 295–312 (1987).
   Article CAS PubMed Google Scholar
9. Westvik, J. & Lachman, R.S. Coronal and sagittal clefts in skeletal dysplasias. Pediatr. Radiol. 28, 764–770 (1998).
   Article CAS PubMed Google Scholar
10. Dodge, G.R. et al. Heparan sulfate proteoglycan of human colon: partial molecular cloning, cellular expression, and mapping of the gene (HSPG2) to the short arm of human chromosome 1. Genomics 10, 673–680 (1991).
    Article CAS PubMed Google Scholar
11. Kallunki, P. et al. Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1–p35 and identification of a BamHI restriction fragment length polymorphism. Genomics 11, 389–396 (1991).
    Article CAS PubMed Google Scholar
12. Murdoch, A.D., Dodge, G.R., Cohen, I., Tuan, R.S. & Iozzo, R.V. Primary structure of the human heparan sulfate proteoglycan from basement membrane (HSPG2/perlecan). A chimeric molecule with multiple domains homologous to the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor. J. Biol. Chem. 267, 8544–8557 (1992).
    CAS PubMed Google Scholar
13. Kallunki, P. & Tryggvason, K. Human basement membrane heparan sulfate proteoglycan core protein: a 467-kD protein containing multiple domains resembling elements of the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor. J. Cell Biol. 116, 559–571 (1992).
    Article CAS PubMed Google Scholar
14. Cohen, I.R., Grassel, S., Murdoch, A.D. & Iozzo, R.V. Structural characterization of the complete human perlecan gene and its promoter. Proc. Natl. Acad. Sci. USA 90, 10404–10408 (1993).
    Article CAS PubMed PubMed Central Google Scholar
15. Liu, W., Qian, C. & Francke, U. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nature Genet. 16, 328–329 (1997).
    Article CAS PubMed Google Scholar
16. Celebi, J.T., Wanner, M., Ping, X.L., Zhang, H. & Peacocke, M. Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. Hum. Genet. 107, 234–238 (2000).
    Article CAS PubMed Google Scholar
17. Messiaen, L.M. et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum. Mutat. 15, 541–555 (2000).
    Article CAS PubMed Google Scholar
18. Delot, E., Brodie, S.G., King, L.M., Wilcox, W.R. & Cohn, D.H. Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture. J. Biol. Chem. 273, 26692–26697 (1998).
    Article CAS PubMed Google Scholar
19. Hastbacka, J. et al. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am. J. Hum. Genet. 58, 255–262 (1996).
    CAS PubMed PubMed Central Google Scholar
20. Superti-Furga, A. et al. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nature Genet. 12, 100–102 (1996).
    Article CAS PubMed Google Scholar
21. ul Haque, M.F. et al. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nature Genet. 20, 157–162 (1998).
    Article Google Scholar
22. Kurima, K. et al. A member of a family of sulfate-activating enzymes causes murine brachymorphism. Proc. Natl. Acad. Sci. USA 95, 8681–8685 (1998); erratum: 95, 12071 (1998).
    Article CAS PubMed PubMed Central Google Scholar
23. Nicole, S. et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nature Genet. 26, 480–483 (2000).
    Article CAS PubMed Google Scholar
24. David, G., Bai, X.M., Van der Schueren, B., Cassiman, J.J. & Van den Berghe, H. Developmental changes in heparan sulfate expression: in situ detection with mAbs. J. Cell Biol. 119, 961–975 (1992).
    Article CAS PubMed Google Scholar
25. Brodie, S.G. et al. Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. Am. J. Med. Genet. 80, 247–251 (1998).
    Article CAS PubMed Google Scholar
26. Brodie, S.G., Lachman, R.S., McGovern, M.M., Mekikian, P.B. & Wilcox, W.R. Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies. Am. J. Med. Genet. 83, 372–377 (1999).
    Article CAS PubMed Google Scholar
27. Murdoch, A.D., Liu, B., Schwarting, R., Tuan, R.S. & Iozzo, R.V. Widespread expression of perlecan proteoglycan in basement membranes and extracellular matrices of human tissues as detected by a novel monoclonal antibody against domain III and by in situ hybridization. J. Histochem. Cytochem. 42, 239–249 (1994).
    Article CAS PubMed Google Scholar
28. Gruber, H.E., Lachman, R.S. & Rimoin, D.L. Calcospherite (calcification nodule) size in the short rib polydactyly syndromes. Scanning Microsc. 4, 775–780 (1990).
    CAS PubMed Google Scholar

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