| First Author | Giovannini M | Year | 1999 |
| Journal | Genes Dev | Volume | 13 |
| Issue | 8 | Pages | 978-86 |
| PubMed ID | 10215625 | Mgi Jnum | J:54466 |
| Mgi Id | MGI:1335940 | Doi | 10.1101/gad.13.8.978 |
| Citation | Giovannini M, et al. (1999) Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein. Genes Dev 13(8):978-86 |
| abstractText | 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. |
