Biochemical Characterization of Native Schwannonmin/Merlin
Annual summary rept. 11 Aug 2005-10 Aug 2006
ILLINOIS UNIV AT CHICAGO
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Neurofibromatosis type 2 NF2 is an autosomal dominant disorder characterized by the development of bilateral vestibular and spinal schwamomas meningiomas and ependymomas. The hF2 gene encodes a 595 amino acid polypeptide known as NF2 protein or Merlin or Schwanomin. The primary structure of the NF2 protein is homologous to the ERM family of peripheral membrane proteins which includes Eznn Radixin and Moesin. The founding member of the ERM superfamily is the erythrocyte membrane protein 4.1 which cross-links spectrin-actin complexes and attaches them to the plasma membrane. We have established that p55 a palmitoylated peripheral membrane phosphoprotein forms a ternary complex with protein 4.1 and glycophorin C. Notably the Drosophila homologue of pSS functions as a tumor suppressor in epithelial and neuronal tissues. In the 2nd year of the funding penod we demonstrated binding between pSS and the NF2 protein and established the existence of this complex in human erythrocyte plasma membrane. This unexpected finding revealed a new paradigm integrating the known functions of the pSS family of proteins with the pathophysiology of the NF2 protein.
- Medicine and Medical Research