Cited by 1,095Neurofibromatosis and Schwannoma CasesProtein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

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The neurofibromatosis type 1 gene encodes a protein related to GAP

Xu, Gangfeng, O'Connell, Peter, Viskochil, David, Cawthon, Richard, Robertson, Margaret, Culver, Melanie, Dunn, Diane, Stevens, Jeff, Gesteland, Ray, White, Ray, Weiss, Robert·1990·Cell

DOI 10.1016/0092-8674(90)90024-9

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Abstract

cDNA walking and sequencing have extended the open reading frame for the neurofibromatosis type 1 gene (NF1). The new sequence now predicts 2485 amino acids of the NF1 peptide. A 360 residue region of the new peptide shows significant similarity to the known catalytic domains of both human and bovine GAP (GTPase activating protein). A much broader region, centered around this same 360 amino acid sequence, is strikingly similar to the yeast IRA1 product, which has a similar amino acid sequence and functional homology to mammalian GAP. This evidence suggests that NF1 encodes a cytoplasmic GAP-like protein that may be involved in the control of cell growth by interacting with proteins such as the RAS gene product. Mapping of the cDNA clones has confirmed that NF1 spans a t(1;17) translocation mutation and that three active genes lie within an intron of NF1, but in opposite orientation.

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“A small region in the central portion of neurofibromin demonstrated 30% homology with members of the Ras-GTPase Activating Protein (Ras-GAP’s) family [8,56], which are the key negative regulators of the signal transduction protein Ras [5,16,18,19,26,36,38,39,56].”
Background
Lymphoproliferative defects in mice lacking the expression of neurofibromin: functional and biochemical consequences ofNf1 deficiency in T-cell development and function
Ingram, D. A., Zhang, L., McCarthy, J., Wenning, M. J., Fisher, L., Yang, F., Clapp, D. W., & Kapur, R. (2002) · Blood · doi:10.1182/blood-2002-03-0734 · Cited by 52
Spontaneous immortalisation of Schwann cells in culture: short-term cultured Schwann cells secrete growth inhibitory activity
Eccleston, P. A., Mirsky, R., & Jessen, K. R. (1991) · Development · doi:10.1242/dev.112.1.33 · Cited by 52
DNA Methylation and cancer
Spruck, C., Rideout, W. M., & Jones, P. A. (1993) · Birkhäuser Basel eBooks · doi:10.1007/978-3-0348-9118-9_22 · Cited by 52
Protein-Tyrosine Kinases Regulate the Phosphorylation, Protein Interactions, Subcellular Distribution, and Activity of p21rasGTPase-Activating Protein
Moran, M. F., Polakis, P. G., McCormick, F. P., Pawson, T. J., & Ellis, C. A. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.4.1804-1812.1991 · Cited by 52
Genetically engineered mouse models shed new light on the pathogenesis of neurofibromatosis type I-related neoplasms of the peripheral nervous system
Brossier, N. M., & Carroll, S. L. (2011) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2011.08.005 · Cited by 53
“In keeping with these in vitro observations, Ras proteins are hyperactivated in nerve sheath tumors that have lost NF1, and reintroduction of the NF1 GRD into tumor cells decreases Ras activation and slows tumor cell proliferation [4, 54, 91].”
Background
Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults
Leschziner, G. D., Golding, J. F., & Ferner, R. E. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35915 · Cited by 51
“Furthermore, patientswithNF1have a higher incidence of psychiatric disorders, especially depression and anxiety [Mouridsen and Sorensen, 1995; Zoller and Rembeck, 1999], and indeed reduced sleep has been described in NF1, associated with mental illness [Samuelsson and Riccardi, 1989].”
Background
Recent Advances in the Diagnosis and Pathogenesis of Neurofibromatosis Type 1 (NF1)-associated Peripheral Nervous System Neoplasms
Longo, J. F., Weber, S. M., Turner-Ivey, B., & Carroll, S. L. (2018) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000197 · Cited by 52
Analysis of vascularity of human neurofibromas
Arbiser, J. L., Flynn, E. A., & Barnhill, R. L. (1998) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(98)70158-6 · Cited by 51
Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA
Ars, E. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.6.1307 · Cited by 51
Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients
Valero, M. C., Pascual-Castroviejo, I., Velasco, E. A., Moreno, F., & Hernández-Chico, C. (1997) · Human Genetics · doi:10.1007/s004390050438 · Cited by 51
Neurofibromatosis-Noonan syndrome
Carey, J. C. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980123)75:3 · Cited by 44
Genetic and Biochemical Alterations in Non-Small Cell Lung Cancer
Johnson, J. L., Pillai, S., & Chellappan, S. (2012) · Biochemistry Research International · doi:10.1155/2012/940405 · Cited by 52
“, NF1, neurofibromin), catalyze GTP hydrolysis and the formation back to the inactive form, Ras-GDP [41, 43].”
Background
The Ras-GTPase-Activating Protein SH3 Domain Is Required for Cdc2 Activation and Mos Induction by Oncogenic Ras inXenopusOocytes Independently of Mitogen-Activated Protein Kinase Activation
Pomérance, M., THANG, M. N., Tocqué, B., & Pierre, M. (1996) · Molecular and Cellular Biology · doi:10.1128/mcb.16.6.3179 · Cited by 50
Purification and N-terminal sequence of the p21rho GTPase-activating protein, rho GAP
Garrett, M. D., Major, G. N., Totty, N. F., & Hall, A. (1991) · Biochemical Journal · doi:10.1042/bj2760833 · Cited by 50
The Molecular Genetics of Lung Cancer
Shames, D. S., Sato, M., & Minna, J. D. (2008) · Lung Cancer · doi:10.1002/9780470696330.ch4 · Cited by 50
The paradox of FGFR3 signaling in skeletal dysplasia: Why chondrocytes growth arrest while other cells over proliferate
Krejčí, P. (2013) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2013.11.001 · Cited by 51
Deregulated signalling networks in human brain tumours
Grzmil, M., & Hemmings, B. A. (2009) · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics · doi:10.1016/j.bbapap.2009.10.018 · Cited by 49
Oligodendrocyte progenitor cell numbers and migration are regulated by the zebrafish orthologs of the NF1 tumor suppressor gene
Lee, J.-S., Padmanabhan, A., Shin, J., Zhu, S., Guo, F., Kanki, J. P., Epstein, J. A., & Look, A. T. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq395 · Cited by 49
“To test whether the overproliferation of OPCs in nf1 morphants was dependent upon GRD function, we co-injected mRNA encoding the GRD domain of human NF1 (5,6,30) into nf1a + 1b-morphant embryos [Tg(olig2:EGFP): p53 e7/e7 background] and examined whether its expression could rescue this phenotype.”
Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1)
Kaufmann, D., Wiandt, S., Veser, J., & Krone, W. (1991) · Human Genetics · doi:10.1007/bf00204170 · Cited by 49
“Offprint requests to: W. Krone recently become amenable to detailed molecular analysis (Viskochil et al. 1990; Wallace et al. 1990; Xu et al. 1990a; Cawthon et al. 1990; Buchberg et al. 1990).”
Background
Associations of osseous abnormalities in Neurofibromatosis 1
Alwan, S., Armstrong, L., Joe, H., Birch, P. H., Szudek, J., & Friedman, J. M. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31754 · Cited by 49
“The NF1-encoded protein, neurofibromin, contains a domain that activates ras-GTPase, which reduces the activity of an important signal transduction pathway involved in the control of cellular growth and differentiation [Xu et al., 1990].”
Background
Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene
Ainsworth, P. J., Rodenhiser, D. I., & Costa, M. T. P. (1993) · Human Genetics · doi:10.1007/bf00222716 · Cited by 49
“The complete coding sequence of the NF1 gene is now available, following the publication of the 5" portion of the gene (Marchuk et al. 1991; where the A in the ATG initiation codon = nucleotide +1 ) and 7749 bases of the 3" sequence of the NFI gene by Xu et al. (1990) .”
Method
Neurofibromin-deficient fibroblasts fail to form perineurium in vitro
Rosenbaum, T., Boissy, Y. L., Kombrinck, K. W., Brannan, C. I., Jenkins, N. A., Copeland, N. G., & Ratner, N. (1995) · Development · doi:10.1242/dev.121.11.3583 · Cited by 49
Genetics of Moyamoya disease
Roder, C., Nayak, N. R., Khan, N., Tatagiba, M. S., Inoue, I., & Krischek, B. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.103 · Cited by 48
Monozygotic twins discordant for neurofibromatosis 1
Kaplan, L. M., Foster, R., Shen, Y., Parry, D. M., McMaster, M. L., O’Leary, M., & Gusella, J. F. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33271 · Cited by 48
“The NF1 protein, neurofibromin, is a tumor suppressor with a GAP domain that is involved in negative regulation of Ras family GTPases [Ballester et al., 1990; Xu et al., 1990].”
Background
Hereditary myeloid malignancies
Rafei, H., & Dinardo, C. D. (2019) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2019.05.001 · Cited by 49
Signaling to Cardiac Hypertrophy: Insights from Human and Mouse RASopathies
Sala, V., Gallo, S., Leo, C., Gatti, S., Gelb, B. D., & Crepaldi, T. (2012) · Molecular Medicine · doi:10.2119/molmed.2011.00512 · Cited by 49
Interactions between Adenylate Cyclase and the Yeast GTPase-Activating Protein IRA1
Mitts, M. R., Bradshaw-Rouse, J. J., & Heideman, W. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.9.4591 · Cited by 48
A Novel Glial Growth Inhibitory Factor, Gliostatin, Derived from Neurofibroma
Asai, K., Hirano, T., Kaneko, S., Moriyama, A., Nakanishi, K., Isobe, I., Ekşioğlu, Y. Z., & Kato, T. (1992) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1992.tb08905.x · Cited by 48
“, 19871, and that it encodes a protein related to GTPase activating protein (GAP), which might be involved in the control of cell growth by interacting with ras gene product (Xu et al., 1990).”
Background
GAPs in understanding Ras
Wigler, M. H. (1990) · Nature · doi:10.1038/346696a0 · Cited by 48
Clinical and genetic patterns of neurofibromatosis 1 and 2.
Ragge, N. (1993) · British Journal of Ophthalmology · doi:10.1136/bjo.77.10.662 · Cited by 48

Authors: Xu, G., O'Connell, P., Viskochil, D., Cawthon, R., Robertson, M., Culver, M., Dunn, D., Stevens, J., Gesteland, R., White, R., & Weiss, R.
Affiliations: Howard Hughes Medical Institute (US)
University of Utah (US)
ORCID: O'Connell, Peter
Viskochil, David
Cawthon, Richard
Culver, Melanie
Stevens, Jeff
Weiss, Robert
Venue: Cell
Publisher: Elsevier BV
Published: 1990-08
Volume: 62
Issue: 3
Pages: 599-608
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/0092-8674(90)90024-9
OpenAlex: W2159096148
Cited by: 1,095
References: 42
Citations by year: 2026: 7 · 2025: 13 · 2024: 19 · 2023: 19 · 2022: 22 · 2021: 22 · 2020: 22 · 2019: 18 · 2018: 22 · 2017: 17 · 2016: 19 · 2015: 21 · 2014: 24 · 2013: 24 · 2012: 45
FWCI: 70.71
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Cell (publishedVersion)
PubMed (publishedVersion)
Funders: Howard Hughes Medical Institute
U.S. Department of Energy
Topics: Health Sciences › Medicine › Clinical Neurology › Neurofibromatosis and Schwannoma Cases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Tyrosine Phosphatases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Kinase Regulation and GTPase Signaling
Keywords: neurofibromatosis type 1, NF1 gene, GTPase-activating protein, Ras, open reading frames, cDNA cloning, cell growth regulation, protein homology
MeSH terms: Amino Acid Sequence, Animals, Base Sequence, Cattle, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 17, Cloning, Molecular, Genes, Humans, Information Systems, Molecular Sequence Data, Neurofibromatosis 1, Proteins, Sequence Homology, Nucleic Acid, Translocation, Genetic, Oligonucleotide Probes, Gene Library, Polymerase Chain Reaction, GTPase-Activating Proteins, ras GTPase-Activating Proteins, Neurofibromin 1

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The neurofibromatosis type 1 gene encodes a protein related to GAP

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