Human Molecular Genetics Advance Access originally published online on August 12, 2003
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Human Molecular Genetics, 2003, Vol. 12, Review Issue 2 R285-R292
DOI: 10.1093/hmg/ddg273
© 2003 Oxford University Press
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
1IGBMC, CNRS/INSERM/ULP, Illkirch, France and 2Dulbecco Telethon Institute, DIBIT, San Raffaele Scientific Institute, Milan, Italy
Received July 28, 2003; Accepted August 4, 2003
The myotubularin family is a large eukaryotic group within the tyrosine/dual-specificity phosphatase super-family (PTP/DSP). Among the 14 human members, three are mutated in genetic diseases: myotubular myopathy and two forms of Charcot–Marie–Tooth neuropathy. We present an analysis of the myotubularin family in sequenced genomes. The myotubularin family encompasses catalytically active and inactive phosphatases, and both classes are well conserved from nematode to man. Catalytically active myotubularins dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns3,5P2, leading to the production of PtdIns and PtdIns5P. This activity may be modulated by direct interaction with catalytically inactive myotubularins. These phosphoinositides are signaling molecules that are notably involved in vacuolar transport and membrane trafficking. Myotubularins are thus proposed to be implicated in these cellular mechanisms, and recent observations on myotubularins homologues in the nematode Caenorhabditis elegans indicate a role in endocytosis.
* To whom correspondence should be addressed at: IGBMC, 1 rue Laurent Fries, BP 10142, 67404 Illkirch, France. Tel: +33 388653244; Fax: +33 388653246; Email: mtm{at}titus.u-strasbg.fr
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