Mutation associated with crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2

Journal of Cellular Physiology

Volumn 172, Issue 1, 1997, Pages 117-125

  Mangasarian, Karen ^a   Li, Yan ^a   Mansukhani, Alka ^a   Basilico, Claudio ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR;

ARTICLE; BONE DEVELOPMENT; CELL DIFFERENTIATION; CELL STRAIN 3T3; CROUZON SYNDROME; DIMERIZATION; HUMAN; HUMAN CELL; MUTATION; MYOBLAST; PRIORITY JOURNAL;

3T3 CELLS; ANIMALS; CELL DIFFERENTIATION; COS CELLS; CRANIOSYNOSTOSES; DIMERIZATION; DISULFIDES; GENES, DOMINANT; GLYCOSYLATION; LIGANDS; MICE; MUTATION; PROTEIN BINDING; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0030871359     PISSN: 00219541     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4652(199707)172:1<117::AID-JCP13>3.0.CO;2-9     Document Type: Article

References (34)

1. Bargmann, C.I., Hung, M.C., and Weinberg, R.A. (1986) Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185. Cell, 45:649-657.
2. Bergonzoni, L., Caccia, P., Cletini, O., Sarmientos, P., and Isacchi, A. (1992) Characterization of a biologically active extracellular domain of fibroblast growth factor receptor 1 expressed in Escherichia coli. Eur. J. Biochem., 210:823-829.
3. Galvin, B.D., Hart, K.C., Meyer, A.N., Webster, M.K., and Donoghue, D.J. (1996) Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. Proc. Natl. Acad. Sci. U.S.A., 93:7894-7899.
4. Heldin, C. (1995) Dimerization of cell surface receptors in signal transduction. Cell, 80:213-223.
5. Jabs, E.W., Li, X., Scott, A.F., Meyers, G., Chen, W., Eccles, M., Mao, J.I., Charnas, L.R., Jackson, C.E., and Jaye, M. (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat. Genet., 8:275-279.
6. Lajeunie, E., Ma, H.W., Bonaventure, J., Munnich, A., Le Merrer, M., and Renier, D. (1995) FGFR2 mutations in Pfeiffer syndrome. Nat. Genet., 9:108.
7. Lemmon, M.A., and Schlessinger, J. (1994) Regulation of signal transduction and signal diversity by receptor oligomerization. Trends Biochem. Sci., 19:459-463.
8. Li, X., Park, W.J., Ryeritz, R.E., and Jabs, E.W. (1995) Effect on splicing of a silent FGFR2 mutation in crouzon syndrome. Nat. Genet., 9:232-233.
9. Li, Y., Mangasarian, K., Mansukhani, A., and Basilico, C. (1997) Activation of FGF receptors by mutations in the transmembrane domain. Oncogene., 14:1397-1406.
10. Mansukhani, A., Dell'Era, P., Moscatelli, D., Kornbluth, S., Hanafusa, H., and Basilico, C. (1992) Characterization of the murine BEK fibroblast growth factor (FGF) receptor: Activation by three members of the FGF family and requirement for heparin. Proc. Natl. Acad. Sci. U.S.A., 89:3305-3309.
11. Meyers, G.A., Day, D., Goldberg, R., Daentl, D.L., Przylepa, K.A., Abrams, L.J., Graham, J.M., Feingold, M., Moeschler, J.B., Rawnsley, E., Scott, A.F., and Jabs, E.W. (1996) FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missencse changes, insertions and a deletion due to alternative RNA splicing. Am. J. Hum. Genet., 58:491-498.
12. Moloney, D.M., Slaney, S.F., Oldridge, M., Wall, S.A., Sahlin, P., Stenman, G., and Wilkie, A.O.M. (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nat. Gen., 13:48-53.
13. Moscatelli, D. (1987) High and low affinity binding sites for bFGF on cultured cells: Absence of a role for low affinity binding in the stimulation of plasminogen activator production by bovine capillary endothelial cells. J. Cell. Physiol., 131:123-130.
14. Muenke, M., and Schell, U. (1995) Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet., 11:308-313.
15. Muenke, M., Schell, U., Hehr, A., Robin, N.H., Losken, H.W., Schinzel, A., Pulleyn, L.J., Rutland, P., Reardon, W., and Malcolm, S. (1994) A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat. Genetics, 8:269-274.
16. Neilson, K.M., and Friesel, R.E. (1995) Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome. J. Biol. Chem., 270:26037-26040.
17. Peters, K.G., Werner, S., Chen, G., and Williams, L.T. (1992) Two FGF receptor genes are differentially expressed in epithelial and mesenchumal tissues during limb formation and organogenesis in the mouse. Development, 114:233-243.
18. Pryer, N.K., Wuestehube, L.J., and Schekman, R. (1992) Vesicle-mediated protein sorting. Annu. Rev. Biochem., 61:471-516.
19. Przylepa, K.A., Paznekas, W., Zhang, M., Golabi, M., Bias, W., Hall, B.D., Bamshad, M.J., Carey, J.C., Hall, B.D., Stevenson, R., Orlow, S.J., Cohen, M.M., and Jabs, E.W. (1996) Fibroblast frowth factor receptor 2 mutatins in Beare-Stevenson cutis gyrata syndrome. Nat. Genet., 13:492-494.
20. Reardon W., Winter, R.M., Rutland, P., Pulleyn, L.J., Jones, B.M., and Malcolm, S. (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat. Genet., 8:98-103.
21. Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J.M., Maroteaux, P., Le Merrer, M., and Munnich, A. (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature, 371:252-254.
22. Rutland, P., Pulleyn, L.J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R.M., Oldridge, M., Slaney, S.F., Poole, M.D., and Wilkie, A.O.M. (1995) Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat. Genet., 9:173-176.
23. Sambrook, J., Fritscj, E.F., and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
24. Santoro, M., Carlomagno, F., Romano, A., Bottaro, D.P., Dathan, N.A., Grieco, M., Fusco, A., Vecchio, G., Matoskova, B., Kraus, M.H., and Di Fiore, P.P. (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science, 267:381-383.
25. Schell, U., Hehr, A., Feldman, G.J., Robin, N.H., Zackai, E.H., de Die-Smulders, C., Viskochil, D.H., Stewart, J.M., Wolff, G., and Ohashi, H (1995) Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer. Hum. Mol. Genet., 4:323-328.
26. Schlessinger, J., and Ullrich, A. (1992) Growth factor signaling by receptor tyrosine kinases. Neuron, 9:383-391.
27. Segatto, O., King, C.R., Pierce, J.H., Difiore, P.P., and Aaronson, S.A. (1988) Different structural alterations upregulate in vitro kinase activity and transforming potency of the erbB-2 gene. Mol. Cell. Biol., 8:5570-5574.
28. Shiang, R., Thompson, L.M., Zhu, Y.Z., Church, D.M., Fielder, T.J., Bocian, M., Winokur, S.T., and Wasmuth, J.J. (1994) Mutation in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell, 78:335-342.
29. Slaney, S.F., Oldridge, M., Hurst, J.A., Morriss-Kay, G.M., Hall, C.M., Poole, M.D., and Wilkie, A.O.M. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am. J. Hum. Genet., 58:923-932.
30. Sternberg, M.J., and Gullick, W.J. (1989) Neu receptor dimerization. Nature, 339:587.
31. Webster, M.K., and Donoghue, D.J. (1996) Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J., 15:520-527.
32. Wilkie, A.O.M., Slaney, S.F., Oldridge, M., Poole, M.D., Ashworth, G.J., Hockley, A.D., Hayward, R.D., David, D.J., Pulleyn, L.J., and Rutland, P. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat. Genet., 9:165-172.
33. Yamamoto, T., Nishida, T., Miyajima, N., Kawai, S., Ooi, T., and Toyoshima, K. (1983) The erbB gene of avian erythroblastosis virus is a member of the src gene family. Cell, 35:71-78.
34. Yayon, A., Zimmer, Y., Guo-Hong, S., Avivi, A., Yarden, Y., and Givol, D. (1992) A confined variable region confers ligand specificity on fibroblast growth factor receptors: Implications for the origin of the immunoglobulin fold. EMBO J., 11:1885-1890.