Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations.

ABSTRACT: Despite intense study of the neurofibromatosis type 2 (NF2) tumor-suppressor protein merlin, the biological properties and tumor-suppressor functions of merlin are still largely unknown. In this study, we examined the molecular activities of NF2-causing mutant merlin proteins in transfected mammalian cells, to elucidate the merlin properties that are critical for tumor-suppressor function. Most important, we found that 80% of the merlin mutants studied significantly altered cell adhesion, causing cells to detach from the substratum. This finding implies a function for merlin in regulating cell-matrix attachment, and changes in cell adhesion caused by mutant protein expression may be an initial step in the pathogenesis of NF2. In addition, five different mutations in merlin caused a signifi

SUBMITTER: Stokowski RP 

PROVIDER: S-EPMC1288182 | biostudies-literature | 2000 Mar

REPOSITORIES: biostudies-literature