Human Molecular Genetics Advance Access published online on August 12, 2003
Human Molecular Genetics, doi:10.1093/hmg/ddg273
© 2003 by Oxford University Press
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1 IGBMC, CNRS/INSERM/ULP, Illkirch, France
* To whom correspondence should be addressed. E-mail: mtm{at}titus.u-strasbg.fr.
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 C. elegans indicate a role in endocytosis.
Article
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
2 Dulbecco Telethon Institute, DIBIT, San Raffaele Scientific Institute, 20132 Milano, Italy
3 IGBMC, 1 rue Laurent Fries, B.P.10142, 67404 Illkirch, France
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