Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1)

Human Molecular Genetics

Volumn 7, Issue 8, 1998, Pages 1261-1268

  Klose, Anja ^a   Ahmadian, M Reza ^b   Schuelke, Markus ^a   Scheffzek, Klaus ^b   Hoffmeyer, Sven ^c   Gewies, Andreas ^a   Schmitz, Frank ^b   Kaufmann, Dieter ^c   Peters, Hartmut ^a   Wittinghofer, Alfred ^b   Nürnberg, Peter ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE OF MOLECULAR PHYSIOLOGY   (Germany)

^c UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; NEUROFIBROMIN; PROLINE;

AMINO ACID SUBSTITUTION; ARTICLE; CRYSTAL STRUCTURE; HUMAN; MALIGNANT NEURILEMOMA; MISSENSE MUTATION; NEUROFIBROMATOSIS; PRIORITY JOURNAL; PROTEIN STRUCTURE;

AMINO ACID SEQUENCE; FEMALE; GENE EXPRESSION REGULATION; GENOME, HUMAN; GTPASE-ACTIVATING PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PROTEINS; RAS GTPASE-ACTIVATING PROTEINS; SEQUENCE ALIGNMENT;

EID: 7344222073     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (37)

1. Huson, S.M. and Hughes. R.A.C. (1994) The Neurofibromatoses: A Clinical and Pathogenetic Overview. Chapman and Hall, London.
2. Gutmann, D.H. and Collins, F.S. (1993) The neurofibromatosis type I gene and its protein product, neurofibromin. Neuron, 10, 335-343.
3. Shen, M.H., Harper, P.S. and Upadhyaya, M. (1996) Molecular genetics of neurofibromatosis type 1 (NF1). J. Med. Genet., 33, 2-17.
4. Upadhyaya, M., Osborn, M.J., Maynard, J., Kim, M.R., Tamanoi, F. and Cooper, D.N. (1997) Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum. Genet., 99, 88-92.
5. Skuse, G.R. and Cappione, A.J. (1997). RNA processing and clinical variability in neurofibromatosis type I (NF1). Hum. Mol. Genet., 6. 1707-1712.
6. Ahmadian, M.R., Wiesmuller, L., Lautwein, A., Bischoff, F.R. and Wittinghofer. A. (1996) Structural differences in the minimal catalytic domains of the GTPase-activating proteins p120GAP and neurofibromin. J. Biol. Chem., 271, 16409-16415.
7. Johnson, M.R., Look, A.T., deClue, J.E., Valentine, M.B. and Lowy, D.R. (1993) Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP-Ras. Proc. Natl Acad. Sci. USA. 90, 5539-5543.
8. Johnson, M.R., deClue, J.E., Felzmann, S., Vass, W.C., Xu, G., White, R. and Lowy, D.R. (1994) Neurofibromin can inhibit Ras-dependent growth by a mechanism independent of its GTPase-accelerating function. Mol. Cell. Biol., 14, 641-645.
9. Xu, H. and Gutmann, D.H. (1997) Mutations in the GAP-related domain impair the ability of neurofibromin to associate with microtubules. Brain Res., 759, 149-152.
10. Scheffzek, K., Lautwein, A., Kabsch, W., Ahmadian, M.R. and Wittinghofer. A. (1996) Crystal structure of the GTPase-activating domain of human p120GAP and implications for the interaction with Ras. Nature. 384, 591-596.
11. Scheffzek, K., Ahmadian, M.R., Kabsch, W., Wiesmuller, L., Lautwein, A., Schmitz, F. and Wittinghofer, A. (1997) The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants. Science, 277, 333-338.
12. Mittal, R., Ahmadian, M.R., Goody, R.S. and Wittinghofer, A. (1996) Formation of a transition-state analog of the Ras GTPase reaction by Ras-GDP, tetrafluoroaluminate, and GTPase-activating proteins. Science, 273, 115-117.
13. Ahmadian, M.R., Stege, P., Scheffzek, K. and Wittinghofer, A. (1997) Confirmation of the arginine finger hypothesis for the GAP stimulated GTP hydrolysis reaction of Ras. Nature Struct. Biol., 4, 686-689.
14. Robinson, P.N., Buske, A., Neumann, R., Tinschert, S. and Nürnberg, P. (1996) Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis. Hum. Mutai., 7, 85-88.
15. Horn, D., Robinson, P.N., Böddrich, A., Buske, A., Tinschert, S. and Nürnberg, P. (1996) Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8. Electrophoresis, 17, 1559-1563.
16. Heim, R.A., Kam-Morgan, L.M., Binnie, C.G., Corns, D.D., Cayouette, M.C., Farber, R.A., Aylsworth, A.S., Silverman, L.M. and Luce, M.C. (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum. Mol. Genet., 4, 975-981.
17. Griesser, J., Kaufmann, D., Maier, B., Mailhammer, R., Kuehl, P. and Krone, W. (1997) Post-transcriptional regulation of neurofibromin level in cultured human melanocytes in response to growth factors. J. Invest. Dermalol., 108, 275-280.
18. Ahmadian, M.R., Hoffmann, U., Goody, R.S. and Wittinghofer, A. (1997) Individual rate constants for the interaction of Ras proteins with GTPase-activating proteins determined by fluorescence spectroscopy. Biochemistry, 36, 4535-4541.
19. Gutmann, D.H., Aylsworth, A., Carey, J.C., Korf, B., Marks, J., Pyeritz, R.E., Rubenstein, A. and Viskochil, D. (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. J. Am. Med. Assoc., 278, 51-57.
20. Li, Y., O'Connell, P., Breidenbach, H.H., Cawthon, R., Stevens, J., Xu, G., Neil, S., Robertson, M., White, R. and Viskochil, D. (1995) Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics, 25, 9-18.
21. Liu, W., Qian, C. and Francke, U. (1997) Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nature Genet., 16, 328-329.
22. Hoffmeyer, S., Assum, G., Griesser, J., Kaufmann, D., Nürnberg, P. and Krone, W. (1995) On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1. Hum. Mol. Genet., 4, 1267-1272.
23. Hoffmeyer, S. and Assum, G. (1994) An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene. Hum. Genet., 93, 481-482.
24. Di Mario, F.J. Jr, Ramsby, G., Greenstein, R., Langshur, S. and Dunham, B. (1993) Neurofibromatosis type 1: magnetic resonance imaging findings. J. Child. Neurol., 8, 32-39.
25. Kaufmann, A.S., Kaufmann, N.L., Kamphaus, R.W. and Naglieri, J.A. (1982) Sequential and simultaneous factors at ages 3-12 1/2: developmental changes in neuropsychological dimensions. Clin. Neuropsychol., 4, 74-81.
26. Li, Y., Bollag, G., Clark, R., Stevens, J., Conroy, L., Fults, D., Ward, K., Friedman, E., Samowitz, W., Robertson, M., Bradley, P., McCormick, F., White, R. and Cawthon, R. (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell, 69, 275-281.
27. Geyer, M., Schweins, T., Herrmann, C., Prisner, T., Wittinghofer, A. and Kalbitzer, H.R. (1996) Conformational transitions in p21ras and in its complexes with the effector protein Raf-RBD and the GTPase activating protein GAP. Biochemistry, 35, 10308-10320.
28. Purandare, S.M., Lanyon, W.G. and Connor, J.M. (1994) Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. Hum. Mol. Genet., 3, 1109-1115.
29. Poullet, P., Lin, B., Esson, K. and Tamanoi. F. (1994) Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes. Mol. Cell. Biol., 14, 815-821.
30. McCormick, F. (1995) Ras signaling and NF1. Curr. Opin. Genet. Dev., 5, 51-55.
31. Basu, T.N., Gutmann, D.H., Fletcher, J.A., Glover, T.W., Collins, F.S. and Downward, J. (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature, 356, 713-715.
32. deClue, J.E., Papageorge, A.G., Fletcher, J.A., Diehl, S.R., Ratner, N., Vass, W.C. and Lowy, D.R. (1992) Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell, 69, 265-273.
33. Largaespada, D.A., Brannan, C.I., Jenkins, N.A. and Copeland. N.G. (1996) Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. Nature Genet., 12, 137-143.
34. Bollag, G., Clapp, D.W., Shih, S., Adler, F., Zhang, Y.Y., Thompson, P., Lange, B.J., Freedman, M.H., McCormick, F., Jacks, T. and Shannon, K. (1996) Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nature Genet., 12, 144-148.
35. Guha, A., Lau, N., Huvar, I., Gutmann, D., Provias, J., Pawson, T. and Boss, G. (1996) Ras-GTP levels are elevated in human NF1 peripheral nerve tumors. Oncogene, 12, 507-513.
36. Marshall, C.J. (1995) Specificity of receptor tyrosine kinase signaling: transient versus sustained extracellular signal-regulated kinase activation. Cell, 80, 179-185.
37. Vogel, K.S., Brannan, C.I., Jenkins, N.A., Copeland, N.G. and Parada, L.F. (1995) Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic neurons. Cell, 82, 733-742.