[Molecular biological analysis of neurofibromatosis type 2 gene].
Neurofibromatosis type 2 is a hereditary disorder characterized by bilateral vestibular and other schwannomas as well as various other central nervous system neoplasms such as gliomas, meningiomas, and neurofibromas. The region containing the NF2 gene has been localized to 22q12 both by linkage analysis and deletion mapping of NF2-related tumors. Recently a candidate gene, named Merlin, was cloned by means of defining a constitutional interstitial deletion in an NF2 patient. The Merlin gene product belongs to a family of proteins which include moesin, ezrin and radixin, involved in linking the cytoskeleton to the cell membrane. Merlin thus forms a novel class of tumor suppressor genes, and an analysis of its function in vivo and the clinical implications of its loss in schwannoma cells remains to be explored.
Ichimura
K
K
Department of Pathology, University of Gothenburg.
Yuasa
Y
Y
D002460:Cell Line; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D004247:DNA; D016515:Genes, Neurofibromatosis 2; D016147:Genes, Tumor Suppressor; D006801:Humans; D016518:Neurofibromatosis 2 / Q000235:genetics*
D004247:DNA