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Developmental regulation of NF1 tumor suppressor gene in human peripheral nerve

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Journal of Neurocytology

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References

  • Andersen, L.B., Ballester, R., Marchuk, D.A., Chang, E., Gutmann, D.H., Saulino, A.M., Camonis, J., Wigler, M. & Collins, F.S. (1993) A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Molecular and Cellular Biology 13, 487-95.

    Google Scholar 

  • Basu, T.N., Gutmann, D.H., Fletcher, J.A., Glover, T.W., Collins, F.S. & Downward, J. (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 356, 713-15.

    Google Scholar 

  • Bollag, G. & McCormick, F. (1992) Ras regulation.NF is enough of GAP. Nature 356, 663-4.

    Google Scholar 

  • Brannan, C.I., Perkins, A.S., Vogel, K.S., Ratner, N., Nordlund, M.L., Reid, S.W., Buchberg, A.M., Jenkins, N.A., Parada, L.F. & Copeland, N.G. (1994) Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes and Development 8, 1019-29.

    Google Scholar 

  • Cawthon, R.M., Weiss, R., Xu, G.F., Viskochil, D., Culver, M., Stevens, J., Robertson, M., Dunn, D., Gesteland, R., O'Connell, P. & White, R. (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62, 193-201.

    Google Scholar 

  • Chirgwin, J.M., Przybyla, A.E., Macdonald, R.J. & Rutter, W.J. (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease.Biochemistry 18, 5294-9.

    Google Scholar 

  • Chomczynski, P. & Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Analytical Biochemistry 162, 156-9.

    Google Scholar 

  • Danglot, G., Regnier, V., Fauvet, D., Vassal, G., Kujas, M. & Bernheim, A. (1995) Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene.Human Molecular Genetics 4, 915-20.

    Google Scholar 

  • Daston, M.M. & Ratner, N. (1992) Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development.Developmental Dynamics 195, 216-26.

    Google Scholar 

  • Daston, M.M., Scrable, H., Nordlund, M., Sturbaum, A.K., Nissen, L.M. & Ratner, N. (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8, 415-28.

    Google Scholar 

  • DeClue, J.E., Papageorge, A.G., Fletcher, J.A., Diehl, S.R., Ratner, N., Vass, W.C. & Lowy, D. (1992) Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 69, 265-73.

    Google Scholar 

  • Gesteland, R., O'Connell, P. & White, R. (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62, 193-201.

    Google Scholar 

  • Golubic, M., Roudebush, M., Dobrowolski, S., Wolfman, A. & Stacey, D.W. (1992) Catalytic properties, tissue and intracellular distribution of neurofibromin. Oncogene 7, 2151-9.

    Google Scholar 

  • Griesser, J., Kaufmann, D., Maier, B., Mailhammer, R., Kuehl, P. & Krone, W. (1997) Post-transcriptional regulation of neurofibromin level in cultured human melanocytes in response to growth factors.Journal of Investigative Dermatology 108, 275-80.

    Google Scholar 

  • Gutmann, D.H. (1994) New insights into the neurofibromatoses.Current Opinion in Neurology 7, 166-71.

    Google Scholar 

  • Gutmann, D.H., Geist, R.T., Wright, D.E. & Snider, W.D. (1995) Expression of the neurofibromatosis 1 (NF1) isoforms in developing and adult rat tissues. Cell Growth and Differentiation 6, 315-23.

    Google Scholar 

  • Gutmann, D., Tennekoon, G., Cole, J., Collins, F. & Rutkowski, J. (1993) Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation. Journal of Neuroscience Research 36, 216-23.

    Google Scholar 

  • Gutmann, D., Wood, D. & Collins, F. (1991) Identification of the neurofibromatosis type 1 gene product.Proceedings of the National Academy of Sciences (USA) 88, 9658-62.

    Google Scholar 

  • Hermonen, J., Hirvonen, O., YlÄ-Outinen, H., Lakkakorpi, J., Bjorkstrand, A.-S., Laurikainen, L., Kallioinen, M., Oikarinen, A., Peltonen, S. & Peltonen, J. (1995) Neurofibromin: expression by normal human keratinocytes in vivo and in vitro and in epidermal malignancies.Laboratory Investigation 73, 221-8.

    Google Scholar 

  • Hirvonen, O., Peltonen, S., Hirvonen, H., BjÖrkstrand, A.-S. & Peltonen, J. (1996) Expression of laminin and collagen genes by cells cultured from developing human sciatic nerves. Journal of Peripheral Nervous System 1, 42-52.

    Google Scholar 

  • Huson, S. (1994) Neurofibromatosis 1: a clinical overview.In: The Neurofibromatoses, A Pathogenetic and Clinical Overview (edited by Huson, S. & Hughes, R.), pp 160-203. London: Chapman & Hall.

    Google Scholar 

  • Huynh, D.P., Nechiporuk, T. & Pulst, S.M. (1994) Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development. Developmental Biology 161, 538-51.

    Google Scholar 

  • Jaakkola, S., Savunen, O., Halme, T., Uitto, J. & Peltonen, J. (1993) Basement membranes during development of human nerve: Schwann cells and perineurial cells display marked changes in their expression profiles for laminin subunits and β1 and β4 integrins.Journal of Neurocytology 22, 215-30.

    Google Scholar 

  • Jacks, T., Shih, T.S., Schmitt, E.M., Bronson, R.T., Bernards, A. & Weinberg, R.A. (1994) Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nature Genetics 7, 353-61.

    Google Scholar 

  • Legius, E., Marchuk, D.A., Collins, F.S. & Glover, T.W. (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nature Genetics 3, 122-6.

    Google Scholar 

  • Leivo, I. & Engvall, E. (1988) Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development. Proceedings of the National Academy of Sciences (USA) 85, 1544-8.

    Google Scholar 

  • Morcos, P., Thapar, N., Tusneem, N., Stacey, D. & Tamanoi, F. (1996) Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles. Molecular and Cellular Biology 16, 2496-503.

    Google Scholar 

  • Muona, P., Jaakkola, S., Salonen, V. & Peltonen, J. (1993) Expression of glucose transporter 1 in adult and developing human peripheral nerve. Diabetologia 36, 133-40.

    Google Scholar 

  • Nishi, T., Lee, P.S., Oka, K., Levin, V.A., Tanase, S., Morino, Y. & Saya, H. (1991) Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Oncogene 6, 1555-9.

    Google Scholar 

  • Ochoa, J. (1971) The sural nerve of the human foetus: electron microscope observations and counts of axons.Journal of Anatomy 108, 231-45.

    Google Scholar 

  • Peltonen, J., Jaakkola, S., Lebwohl, M., Renvall, S., Risteli, L., Virtanen, I. & Uitto, J. Cellular differentiation and expression of matrix genes in type 1 neurofibromatosis. (1988) Laboratory Investigation 59, 760-71.

    Google Scholar 

  • Peltonen, J., Jaakkola, S. & Uitto, J. (1991) In situ hybridization and immunodetection techniques for simultaneous localization of messenger RNAs and protein epitopes in tissue sections and cultured cells. Methods of Enzymology 203, 476-84.

    Google Scholar 

  • Riccardi, V. (1981) von Recklinghausen neurofibromatosis.New England Journal of Medicine 305, 1617-27.

    Google Scholar 

  • Rosenbaum, T., Boissy, Y.L., Kombrinck, K., Brannan, C.I., Jenkins, N.A., Copeland, N.G. & Ratner, N. (1995) Neurofibromin-deficient fibroblasts fail to form perineurium in vitro. Development 121, 3583-92.

    Google Scholar 

  • Sawada, S., Florell, S., Purandare, S.M., Ota, M., Stephens, K. & Viskochil, D. (1996) Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nature Genetics 14, 110-2.

    Google Scholar 

  • Serra, E., Puig, S., Otero, D., Gaona, A., Kruyer, H., Ars, E., Estivill, X. & Lazaro, C. (1997) Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. American Journal of Human Genetics 61, 512-9.

    Google Scholar 

  • Suzuki, H., Takahashi, K., Kubota, Y. & Shibahara, S. (1992) Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein.Biochemical and Biophysical Research Communications 187, 984-90.

    Google Scholar 

  • Teinturier, C., Danglot, G., Slim, R., Pruliere, D., Launay, J. & Bernheim, A. (1992) The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain. Biochemical and Biophysical Research Communications 2, 851-7.

    Google Scholar 

  • von Deimling, A. & Krone, W. (1997) Neurofibromatosis type 1. In: Tumours of the Nervous System (edited by Kleihues, P. & Cavenee, W.K.), pp 172-74.Lyon: International Agency for Research on Cancer.

    Google Scholar 

  • Wallace, M., Marchuk, D., Andersen, L., Letcher, R., Odeh, H., Saulino, A., Fountain, J., Brereton, A., Nicholson, J., Mitchell, A., Brownstein, B. & Collins, F. (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249, 181-6.

    Google Scholar 

  • Weinberg, R.A. (1991) Tumor suppressor genes. Science 254, 1138-46.

    Google Scholar 

  • Wrabetz, L., Feltri, M.L., Kim, H., Daston, M., Kamholz, J., Scherer, S.S. & Ratner, N. (1995) Regulation of neurofibromin expression in rat sciatic nerve and cultured Schwann cells. Glia 15, 22-32.

    Google Scholar 

  • Xu, G., O'Connell, P., Viskochil, D., Cawthon, R., Robertson, M., Culver, M., Dunn, D., Stevens, J., Gesteland, R., White, R. & Weiss, R. (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62, 599-608.

    Google Scholar 

  • YlÄ-Outinen, H., Aaltonen, V., BjÖrkstrand, A.-S., Hirvonen, O., Lakkakorpi, J., VÄhÄ-Kreula, M., Laato, M. & Peltonen, J. (1998) Upregulation of tumor suppressor protein neurofibromin in normal wound healing and in vitro evidence for platelet derived growth factor (PDGF) and transforming growth factor-β1 (TGF-β1) elicited increase in neurofibromin mRNA steady-state levels in dermal fibroblasts. Journal of Investigative Dermatology 110, 232-7.

    Google Scholar 

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Authors and Affiliations

  1. Department of Medical Biochemistry, University of Turku, Turku, Finland

    O. Hirvonen, V. Aaltonen, H. Hirvonen & J. Peltonen

  2. Department of Anatomy, University of Oulu, Oulu, Finland

    J. Lakkakorpi, M. Rossi, H. Ylä-Outinen & J. Peltonen

  3. Department of Dermatology, University Hospital of Oulu, Oulu, Finland

    S.-L. Karvonen

  4. Department of Pathology, University Hospital of Turku, Turku, Finland

    H. Kalimo

Authors
  1. O. Hirvonen
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  2. J. Lakkakorpi
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  3. V. Aaltonen
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  4. H. Hirvonen
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  5. M. Rossi
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  6. S.-L. Karvonen
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  7. H. Ylä-Outinen
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  8. H. Kalimo
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  9. J. Peltonen
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Correspondence to O. Hirvonen.

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Hirvonen, O., Lakkakorpi, J., Aaltonen, V. et al. Developmental regulation of NF1 tumor suppressor gene in human peripheral nerve. J Neurocytol 27, 939–951 (1998). https://doi.org/10.1023/A:1006905224474

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