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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Lerman, L., Zehou, O., Ortonne, N., Sbidian, É., Ferkal, S., Hodel, J., Calvo-Bota, E., Blanc‐Durand, P., Luciani, A., Wolkenstein, P., et al. (2019) · Médecine Nucléaire · doi:10.1016/j.mednuc.2019.05.001 · Cited by 3
Bibliometric analysis of the top 100 most-cited articles in neurofibromatosis
Alnefaie, N. T., Almutairi, O. T., Alturki, A. Y., & Bafaquh, M. S. (2022) · Surgical Neurology International · doi:10.25259/sni_114_2022 · Cited by 3
“5 Xu et al.[123] e neurofibromatosis Type 1 gene encodes a protein related to GAP Genetics 1990 Cell 838 27.”
BackgroundInfluential
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions
Pacot, L., Ye, M., Nectoux, J., Laurendeau, I., Briand‐Suleau, A., Coustier, A., Maillard, T., Barbance, C., Orhant, L., Vaucouleur, N., et al. (2023) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2023.11.005 · Cited by 3
Drosophila: An Invertebrate Model of NF1
Walker, J. A., Gouzi, J. Y., & Bernards, A. (2012) · Springer eBooks · doi:10.1007/978-3-642-32864-0_34 · Cited by 3
“The human NF1 gene sequence immediately suggested a function for the encoded protein as a GTPase-Activating Protein (GAP) for Ras (Xu et al. 1990).”
Background
The Central Nervous System in Neurofibromatosis Type 1
Ratner, N., & North, K. N. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-353-8_5 · Cited by 3
Transcriptional Regulation of Melanocyte Function
Takeda, K., & Shibahara, S. (2006) · doi:10.1002/9780470987100.ch13 · Cited by 3
Regulation of the ras Pathway in the Fission Yeast Schizosaccharomyces Pombe
Hughes, D. A., Imai, Y., & Yamamoto, M. P. (1991) · Springer eBooks · doi:10.1007/978-1-4684-6018-6_5 · Cited by 3
Identification and genetic analysis of Schizosaccharomyces pombe cDNAs that suppress deletion of IRA1 in Saccharomyces cerevisiae
Matviw, H., Yu, G., & Young, D. (1993) · Gene · doi:10.1016/0378-1119(93)90711-b · Cited by 3
Molecular Genetic Analysis of the von Recklinghausen Neurofibromatosis (NF1) Gene Using Polymerase Chain Reaction‐Single Strand Conformation Polymorphism (PCR‐SSCP) Method
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Tumor cerebral gigante en un niño con neurofibromatosis segmentaria
Bonet, H. B., Boente, M. D. C., Fauze, R., Conejos, A., & Megías, M. (2001) · Cited by 3
A Case of Squamous Cell Carcinoma of the Lung Complicating von Recklinghausen's Disease.
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Epilepsy
Elmslie, F. (1997) · European Journal of Paediatric Neurology · doi:10.1016/s1090-3798(97)80014-1 · Cited by 3
Mammals II: Downstream of RAS and Actin-Cytoskeleton
Maruta, H. (1996) · Springer eBooks · doi:10.1007/978-1-4613-1183-6_5 · Cited by 3
Sex-dependent differences in pain and sleep in a porcine model of Neurofibromatosis type 1Preprint
Khanna, R., Moutal, A., White, K. A., Chefdeville, A., de Assis, P. N., Cai, S., Swier, V. J., Bellampalli, S. S., Giunta, M. D., Darbro, B. W., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/495358 · Cited by 3
“Neurofibromin acts as a negative regulator of the protooncogene Ras activity through its RAS-GTPase activating domain [2; 58].”
Background
The cryo-EM structure of the neurofibromin dimer reveals the molecular basis for von Recklinghausen diseasePreprint
Lupton, C. J., Bayly-Jones, C., D’Andrea, L., Huang, C., Schittenhelm, R. B., Venugopal, H., Whisstock, J. C., Halls, M. L., & Ellisdon, A. M. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.02.18.431788 · Cited by 3
Tumor-Suppressor Genes and Human Neoplasia
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Mitogen signal
Lemke, G. (1990) · Nature · doi:10.1038/348201b0 · Cited by 3
REGULATING ras
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Targeting Hyperactive Ras Signaling in Pediatric CancerPreprint
Levinson, A. L., Shannon, K., & Huang, B. J. (2024) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041572 · Cited by 3
Nf1 deficiency modulates the stromal environment in the pretumorigenic rat mammary gland
Arumugam, M., Tovar, E. A., Essenburg, C. J., Dischinger, P. S., Beddows, I., Wolfrum, E., Madaj, Z. B., Turner, L., Feenstra, K., Gallik, K. L., et al. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2024.1375441 · Cited by 2
“Loss-of-function or genomic alterations in NF1 result in dysregulated RAS signaling, including the MAPK (mitogen-activated protein kinase) pathway (Xu et al., 1990; Yap et al., 2014; Ratner and Miller, 2015).”
Background
Multiple neurofibromas of the spinal nerve roots
Nakagawa, S., Abe, M., & Tabuchi, K. (1995) · Journal of Clinical Neuroscience · doi:10.1016/0967-5868(95)90012-8 · Cited by 2
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1
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Whole‐exome sequencing has revealed novel genetic characteristics in intracranial germ cell tumours in the Chinese
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Understanding the RAS in RASopathies
McCormick, F. P. (2024) · Springer eBooks · doi:10.1007/978-3-031-62945-7_20 · Cited by 2
NF1 Mutations in Hematologic Cancers
Chang, T. Y., & Shannon, K. (2012) · Springer eBooks · doi:10.1007/978-3-642-32864-0_30 · Cited by 2
Regulation of expression of two different transcripts of the NF-1 gene in neuroblastoma
Girgert, R., & Schweizer, P. (1997) · Journal of Neuro-Oncology · doi:10.1023/a:1005789516322 · Cited by 2

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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