Abstract
PTEN (phosphatase and tensin homolog deleted on chromosome 10) mutations are found at high frequencies in certain tumors, including endometrial carcinomas, gliomas, and breast and prostate cancers. Germline mutations in the PTEN gene are found in the related autosomal disorders Cowden disease, and Lhermitte-Duclos and Bannayan-Zonana syndromes. Biochemical and genetic analyses of PTEN and its role in these diseases have placed it in a group of gatekeeper genes essential for controlling cell growth and development. The crystal structure of PTEN has revealed several features that contribute to its unique substrate specificity. It shows an extensive interface between its PTP domain and C2 domain, suggesting that membrane targeting and lipid phosphatase activity are interdependent. Although the roles of the PH and FYVE domains in MTM function have yet to be determined, it is possible that they serve as targeting motifs to direct the lipid phosphatase domains to specific subcellular environments where PI(3)P is abundant. The physiologic function of myotubularin and related proteins in cell development and signaling processes remains unknown. Studies directed toward clarifying the regulation of myotubularin-related enzymes, as well as identifying downstream effectors, will be of significant value in understanding their roles in cell signaling and development.
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