RGD Reference Report - Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. - Rat Genome Database

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

Authors: Wallace, MR  Marchuk, DA  Andersen, LB  Letcher, R  Odeh, HM  Saulino, AM  Fountain, JW  Brereton, A  Nicholson, J  Mitchell, AL 
Citation: Wallace MR, etal., Science. 1990 Jul 13;249(4965):181-6.
RGD ID: 1580933
Pubmed: PMID:2134734   (View Abstract at PubMed)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NF1Humanneurofibromatosis 1  IAGP  RGD 
Nf1Ratneurofibromatosis 1  ISONF1 (Homo sapiens) RGD 
Nf1Mouseneurofibromatosis 1  ISONF1 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nf1  (neurofibromin 1)

Genes (Mus musculus)
Nf1  (neurofibromin 1)

Genes (Homo sapiens)
NF1  (neurofibromin 1)


Additional Information