A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K
Cell. 1993 72 (5): 791-800

PMID: 8453669 · DOI:10.1016/0092-8674(93)90406-g

Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by the occurrence of bilateral vestibular schwannomas and other central nervous system tumors including multiple meningiomas. Genetic linkage studies and investigations of both sporadic and familial tumors suggest that NF2 is caused by inactivation of a tumor suppressor gene in chromosome 22q12. We have identified a candidate gene for the NF2 tumor suppressor that has suffered nonoverlapping deletions in DNA from two independent NF2 families and alterations in meningiomas from two unrelated NF2 patients. The candidate gene encodes a 587 amino acid protein with striking similarity to several members of a family of proteins proposed to link cytoskeletal components with proteins in the cell membrane. The NF2 gene may therefore constitute a novel class of tumor suppressor gene.

MeSH Terms (16)

Amino Acid Sequence Base Sequence Blood Proteins Chromosome Aberrations Chromosome Disorders Chromosome Walking Cytoskeletal Proteins Genes, Tumor Suppressor Humans Membrane Proteins Microfilament Proteins Molecular Sequence Data Neurofibromatosis 2 Phosphoproteins Proteins Sequence Homology, Amino Acid

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