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A more recent version of this article appeared on January 1, 2004
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Submitted on August 19, 2003
Revised on September 14, 2003
Accepted on September 24, 2003
1 Department of Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85721
2 Departments of Pharmacology and Cell Biology, Skirball Institute of Biomolecular Medicine, New York University School of Medicine, New York, NY 10016
* Corresponding author. E-mail address: fares{at}email.arizona.edu.
MTM1, MTMR2, and SBF2 belong to a family of proteins called the myotubularins (Laporte et al., 2001; Wishart et al., 2001). X-linked Myotubular Myopathy, a severe congenital disorder characterized by hypotonia and generalized muscle weakness in newborn males, is caused by mutations in MTM1 (Laporte et al., 1996). Charcot-Marie-Tooth types 4B1 and 4B2 are severe demyelinating neuropathies caused by mutations in MTMR2 (Bolino et al., 2000) and SBF2/MTMR13 (Senderek et al., 2003), respectively. While several myotubularins are known to regulate phosphoinositide-phosphate levels in cells, little is known about the actual cellular process that is defective in patients with these diseases. Mutations in worm MTM-6 and MTM-9, myotubularins belonging to two subgroups, disorganize phosphoinositide 3-phosphate (PI(3)P) localization and block endocytosis in the coelomocytes of Caenorhabditis elegans. We demonstrate that MTM-6 and MTM-9 function as part of a complex to regulate an endocytic pathway that involves the Arf6 GTPase and we define protein domains required for MTM-6 activity.
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