Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein.
Genes Dev
; 13(8): 978-86, 1999 Apr 15.
Article
in En
| MEDLINE
| ID: mdl-10215625
ABSTRACT
Specific mutations in some tumor suppressor genes such as p53 can act in a dominant fashion. We tested whether this mechanism may also apply for the neurofibromatosis type-2 gene (NF2) which, when mutated, leads to schwannoma development. Transgenic mice were generated that express, in Schwann cells, mutant NF2 proteins prototypic of natural mutants observed in humans. Mice expressing a NF2 protein with an interstitial deletion in the amino-terminal domain showed high prevalence of Schwann cell-derived tumors and Schwann cell hyperplasia, whereas those expressing a carboxy-terminally truncated protein were normal. Our results indicate that a subset of mutant NF2 alleles observed in patients may encode products with dominant properties when overexpressed in specific cell lineages.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Schwann Cells
/
Hyperplasia
/
Membrane Proteins
/
Neurilemmoma
Type of study:
Risk_factors_studies
Limits:
Animals
/
Humans
Language:
En
Journal:
Genes Dev
Journal subject:
BIOLOGIA MOLECULAR
Year:
1999
Document type:
Article
Affiliation country:
France