Journal Article

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

Jocelyn Laporte, Florence Bedez, Alessandra Bolino and Jean-Louis Mandel

in Human Molecular Genetics

Volume 12, issue suppl_2, pages R285-R292
Published in print October 2003 | ISSN: 0964-6906
Published online October 2003 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddg273
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

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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.

Journal Article.  6139 words.  Illustrated.

Subjects: Genetics and Genomics

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