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Science 13 July 1990:
Vol. 249. no. 4965, pp. 181 - 186
DOI: 10.1126/science.2134734
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Articles

Science, Vol 249, Issue 4965, 181-186
Copyright © 1990 by American Association for the Advancement of Science

articles

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

MR Wallace, DA Marchuk, LB Andersen, R Letcher, HM Odeh, AM Saulino, JW Fountain, A Brereton, J Nicholson, AL Mitchell, and al. et

Howard Hughes Medical Institute, Ann Arbor, MI.

Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest. No reliable cellular phenotypic marker has been identified, which has hampered direct efforts to identify the gene. The chromosome location of the NF1 gene has been previously mapped genetically to 17q11.2, and data from two NF1 patients with balanced translocations in this region have further narrowed the candidate interval. The use of chromosome jumping and yeast artificial chromosome technology has now led to the identification of a large (approximately 13 kilobases) ubiquitously expressed transcript (denoted NF1LT) from this region that is definitely interrupted by one and most likely by both translocations. Previously identified candidate genes, which failed to show abnormalities in NF1 patients, are apparently located within introns of NF1LT, on the antisense strand. A new mutation patient with NF1 has been identified with a de novo 0.5-kilobase insertion in the NF1LT gene. These observations, together with the high spontaneous mutation rate of NF1 (which is consistent with a large locus), suggest that NF1LT represents the elusive NF1 gene.


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S. A. M. Thomson, L. Fishbein, and M. R. Wallace (2002)
J Child Neurol 17, 555-561
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Review Article : Neurofibromin in the Brain.
D. H. Gutmann (2002)
J Child Neurol 17, 592-601
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Review Article : Neurofibromatosis 1: Clinical Review and Exceptions to the Rules.
H. Young, S. Hyman, and K. North (2002)
J Child Neurol 17, 613-621
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Astrocyte-Specific Inactivation of the Neurofibromatosis 1 Gene (NF1) Is Insufficient for Astrocytoma Formation.
M. L. Bajenaru, Y. Zhu, N. M. Hedrick, J. Donahoe, L. F. Parada, and D. H. Gutmann (2002)
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R. E. Ferner and D. H. Gutmann (2002)
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Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes.
D. H. Gutmann, Y. L. Wu, N. M. Hedrick, Y. Zhu, A. Guha, and L. F. Parada (2001)
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Stroke 32, 2481-2485
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Solution-Based Scanning for Single-Base Alterations Using a Double-Stranded DNA Binding Dye and Fluorescence-Melting Profiles.
K. S. J. Elenitoba-Johnson and S. D. Bohling (2001)
Am. J. Pathol. 159, 845-853
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Hyperactivation of p21ras and the Hematopoietic-specific Rho GTPase, Rac2, Cooperate to Alter the Proliferation of Neurofibromin-deficient Mast Cells In Vivo and In Vitro.
D. A. Ingram, K. Hiatt, A. J. King, L. Fisher, R. Shivakumar, C. Derstine, M. J. Wenning, B. Diaz, J. B. Travers, A. Hood, et al. (2001)
J. Exp. Med. 194, 57-70
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Malignant Peripheral Nerve Sheath Tumors Associated With Neurofibromatosis Type 1: A Clinicopathologic and Molecular Study of 17 Patients.
K. Leroy, V. Dumas, N. Martin-Garcia, M.-C. Falzone, M.-C. Voisin, J. Wechsler, J. Revuz, A. Creange, E. Levy, L. Lantieri, et al. (2001)
Arch Dermatol 137, 908-913
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The neurofibromatoses: when less is more.
D. H. Gutmann (2001)
Hum. Mol. Genet. 10, 747-755
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Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain.
Y. Zhu, M. I. Romero, P. Ghosh, Z. Ye, P. Charnay, E. J. Rushing, J. D. Marth, and L. F. Parada (2001)
Genes & Dev. 15, 859-876
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Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.
E. Serra, T. Rosenbaum, U. Winner, R. Aledo, E. Ars, X. Estivill, H.-G. Lenard, and C. Lazaro (2000)
Hum. Mol. Genet. 9, 3055-3064
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Malignancy in Neurofibromatosis Type 1.
B. R. Korf (2000)
Oncologist 5, 477-485
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Noninvasive Evaluation of Arterial Abnormalities in Young Patients with Neurofibromatosis Type 1.
G. Ratti, G. Di Salvo, A. R. Martiniello, G. Limongelli, M. Grieco, E. Calabrese, C. Grassia, A. Iacono, G. Lama, and M. A. Tedesco (2000)
Angiology 51, 733-741
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Fine Mapping of Quantitative Trait Loci Using Linkage Disequilibria With Closely Linked Marker Loci.
T. H. E. Meuwissen and M. E. Goddard (2000)
Genetics 155, 421-430
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Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.
E. Ars, E. Serra, S. de la Luna, X. Estivill, and C. Lazaro (2000)
Nucleic Acids Res. 28, 1307-1312
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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
E. Ars, E. Serra, J. Garcia, H. Kruyer, A. Gaona, C. Lazaro, and X. Estivill (2000)
Hum. Mol. Genet. 9, 237-247
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Genetic and Biochemical Evidence that Haploinsufficiency of the Nf1 Tumor Suppressor Gene Modulates Melanocyte and Mast Cell Fates In Vivo.
D. A. Ingram, F.-C. Yang, J. B. Travers, M. J. Wenning, K. Hiatt, S. New, A. Hood, K. Shannon, D. A. Williams, and D. W. Clapp (2000)
J. Exp. Med. 191, 181-188
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F Faravelli, M Upadhyaya, M Osborn, S M Huson, R Hayward, and R Winter (1999)
J. Med. Genet. 36, 893-896
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Inhibition of Angiogenesis by Blocking Activation of the Vascular Endothelial Growth Factor Receptor 2 Leads to Decreased Growth of Neurogenic Sarcomas.
L. Angelov, B. Salhia, L. Roncari, G. McMahon, and A. Guha (1999)
Cancer Res. 59, 5536-5541
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Neurological complications of neurofibromatosis type 1 in adulthood.
A. Creange, J. Zeller, S. Rostaing-Rigattieri, P. Brugieres, J.-D. Degos, J. Revuz, and P. Wolkenstein (1999)
Brain 122, 473-481
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A clinical study of type 1 neurofibromatosis in north west England.
J M McGaughran, D I Harris, D Donnai, D Teare, R MacLeod, R Westerbeek, H Kingston, M Super, R Harris, and D G R Evans (1999)
J. Med. Genet. 36, 197-203
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Urinary Bladder Transitional Cell Carcinogenesis Is Associated with Down-Regulation of NF1 Tumor Suppressor Gene in Vivo and in Vitro.
V. Aaltonen, P. J. Bostrom, K.-O. Soderstrom, O. Hirvonen, J. Tuukkanen, M. Nurmi, M. Laato, and J. Peltonen (1999)
Am. J. Pathol. 154, 755-765
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Construction of an ~700-kb Transcript Map Around the Familial Mediterranean Fever Locus on Human Chromosome 16p13.3.
M. Centola, X. Chen, R. Sood, Z. Deng, I. Aksentijevich, T. Blake, D. O. Ricke, X. Chen, G. Wood, N. Zaks, et al. (1998)
Genome Res. 8, 1172-1191
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N. Ratner, G. S. Bloom, and S. T. Brady (1998)
J. Neurosci. 18, 7717-7726
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A role for Pak protein kinases in Schwann cell transformation.
Y. Tang, S. Marwaha, J. L. Rutkowski, G. I. Tennekoon, P. C. Phillips, and J. Field (1998)
PNAS 95, 5139-5144
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Gene Characterization, Promoter Analysis, and Chromosomal Localization of Human Bleomycin Hydrolase.
A. A. Ferrando, A. M. Pendas, E. Llano, G. Velasco, R. Lidereau, and C. Lopez-Otin (1997)
J. Biol. Chem. 272, 33298-33304
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Direct isolation of human transcribed sequences from yeast artificial chromosomes through the application of RNA fingerprinting.
I. H. Still, P. Vince, and J. K. Cowell (1997)
PNAS 94, 10373-10378
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N-terminal Sequences Contained in the Src Homology 2 and 3 Domains of p120 GTPase-activating Protein Are Required for Full Catalytic Activity Toward Ras.
S. S. Bryant, A. L. Mitchell, F. Collins, W. Miao, M. Marshall, and R. Jove (1996)
J. Biol. Chem. 271, 5195-5199
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Long RT-PCR of the entire 8.5-kb NF1 open reading frame and mutation detection on agarose gels..
J M Martinez, H H Breidenbach, and R Cawthon (1996)
Genome Res. 6, 58-66
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Amplification of the total coding sequence of the NF1 gene from peripheral blood lymphocyte RNA..
M H Shen, P S Harper, and M Upadhyaya (1995)
Genome Res. 4, 311-313
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Neurofibromin-deficient fibroblasts fail to form perineurium in vitro.
T Rosenbaum, Y. Boissy, K Kombrinck, C. Brannan, N. Jenkins, N. Copeland, and N Ratner (1995)
Development 121, 3583-3592
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Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father.
C. Lazaro, A. Ravella, A. Gaona, V. Volpini, and X. Estivill (1994)
N. Engl. J. Med. 331, 1403-1407
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Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues..
C I Brannan, A S Perkins, K S Vogel, N Ratner, M L Nordlund, S W Reid, A M Buchberg, N A Jenkins, L F Parada, and N G Copeland (1994)
Genes & Dev. 8, 1019-1029
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The NF1 Gene in Myelopoiesis and Childhood Myelodysplastic Syndromes.
G. M. Brodeur (1994)
N. Engl. J. Med. 330, 637-639
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Tomorrow's Prenatal Genetic Testing: Should We Test for 'Minor' Diseases?.
C. Strong (1993)
Arch Fam Med 2, 1187-1193
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Neurofibromatosis Type 1: Beyond Positional Cloning.
D. H. Gutmann and F. S. Collins (1993)
Arch Neurol 50, 1185-1193
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Neurofibromatosis Type 1: Review of the First 200 Patients in an Australian Clinic.
K. North (1993)
J Child Neurol 8, 395-402
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A Role for the Otolaryngologist in Identification and Discovery of Genetic Disorders and Chromosomal Abnormalities.
A. K. Lalwani and K. M. Grundfast (1993)
Arch Otolaryngol Head Neck Surg 119, 1074-1081
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Identification of the von Hippel-Lindau disease tumor suppressor gene.
F Latif, K Tory, J Gnarra, M Yao, F. Duh, M. Orcutt, T Stackhouse, I Kuzmin, W Modi, L Geil, et al. (1993)
Science 260, 1317-1320
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Tuberous Sclerosis: The Next Step.
R. S. Kandt (1993)
J Child Neurol 8, 107-110
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Germ line transmission of a yeast artificial chromosome spanning the murine alpha 1(I) collagen locus.
W. Strauss, J Dausman, C Beard, C Johnson, J. Lawrence, and R Jaenisch (1993)
Science 259, 1904-1907
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Proadipocyte cell lines: models of cellular proliferation and differentiation.
M. Smyth, R. Sparks, and W Wharton (1993)
J. Cell Sci. 106, 1-9
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A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group.
(1992)
Science 258, 67-86
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Predisposition to renal cell carcinoma due to alteration of a cancer susceptibility gene.
C Walker, T. Goldsworthy, D. Wolf, and J Everitt (1992)
Science 255, 1693-1695
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Tumor suppressor genes.
R. Weinberg (1991)
Science 254, 1138-1146
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Chromosome aberrations and cancer.
E Solomon, J Borrow, and A. Goddard (1991)
Science 254, 1153-1160
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Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences..
E D Green and P Green (1991)
Genome Res. 1, 77-90
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Identification of FAP locus genes from chromosome 5q21.
K. Kinzler, M. Nilbert, L. Su, B Vogelstein, T. Bryan, D. Levy, K. Smith, A. Preisinger, P Hedge, D McKechnie, et al. (1991)
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Regulation of Ras-GAP and the neurofibromatosis-1 gene product by eicosanoids.
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Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers.
K. Kinzler, M. Nilbert, B Vogelstein, T. Bryan, D. Levy, K. Smith, A. Preisinger, Hamilton SR, P Hedge, A Markham, et al. (1991)
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Regulation of ras p21 by GTPase Activating Proteins.
F. McCormick, G.A. Martin, R. Clark, G. Bollag, and P. Polakis (1991)
Cold Spring Harb Symp Quant Biol 56, 237-241
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