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

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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
JournalHuman Molecular Genetics
Volume12
Issue numberREV. ISS. 2
Publication statusPublished - Oct 15 2003

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Phosphatidylinositols
Congenital Structural Myopathies
Dual-Specificity Phosphatases
Inborn Genetic Diseases
Caenorhabditis elegans
Endocytosis
myotubularin
Phosphoinositide Phosphatases
Phosphoric Monoester Hydrolases
Tyrosine
Tooth
Genome
Membranes
phosphatidylinositol 3-phosphate

ASJC Scopus subject areas

  • Genetics

Cite this

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. / Laporte, Jocelyn; Bedez, Florence; Bolino, Alessandra; Mandel, Jean Louis.

In: Human Molecular Genetics, Vol. 12, No. REV. ISS. 2, 15.10.2003.

Research output: Contribution to journalArticle

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