Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system

Molecular Neurobiology

Volumn 35, Issue 3, 2007, Pages 308-316

  Bolis, Annalisa ^a   Zordan, Paola ^a   Coviello, Silvia ^a   Bolino, Alessandra ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

Myelin; Phosphatase; Schwann cells

Indexed keywords

PHOSPHATIDYLINOSITIDE; PROTEIN MTMR; PROTEIN MTMR 13; PROTEIN MTMR 2; PROTEIN TYROSINE PHOSPHATASE; UNCLASSIFIED DRUG;

CATALYSIS; CYTOLYSIS; DEMYELINATION; ENDOSOME; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NONHUMAN; PERIPHERAL NERVOUS SYSTEM; PERIPHERAL NEUROPATHY; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; REVIEW; SCHWANN CELL;

EID: 36248956630     PISSN: 08937648     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12035-007-0031-0     Document Type: Review

References (65)

1. Salzer JL (2003) Polarized domains of myelinated axons. Neuron 40:297-318
2. Sherman DL, Brophy PJ (2005) Mechanisms of axon ensheathment and myelin growth. Nat Rev Neurosci 6:683-690
3. Suter U, Scherer SS (2003) Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 4:714-726
4. Berger P, Niemann A, Suter U (2006) Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia 54:243-257
5. Niemann A, Berger P, Suter U (2006) Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med 8:217-242
6. Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A et al (2000) Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25:17-19
7. Azzedine H, Bolino A, Taieb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T et al (2003) Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 72:1141-1153
8. Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schoneborn S, Buttner R, Buchheim E, Zerres K (2003) Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 12:349-356
9. Laporte J, Bedez F, Bolino A, Mandel JL (2003) Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet 12(Spec No 2):R285-R292
10. Robinson FL, Dixon JE (2006) Myotubularin phosphatases: policing 3-phosphoinositides. Trends Cell Biol 16:403-412
11. Schaletzky J, Dove SK, Short B, Lorenzo O, Clague MJ, Barr FA (2003) Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. Curr Biol 13:504-509
12. Tsujita K, Itoh T, Ijuin T, Yamamoto A, Shisheva A, Laporte J, Takenawa T (2004) Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3, 5-bisphosphate interaction. J Biol Chem 279:13817-13824
13. Berger P, Schaffitzel C, Berger I, Ban N, Suter U (2003) Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module. Proc Natl Acad Sci USA 100:12177-12182
14. Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL (2000) Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet 9:2223-2229
15. Zhao R, Qi Y, Chen J, Zhao ZJ (2001) FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphotidylinositol 3-phosphate. Exp Cell Res 265:329-338
16. Walker DM, Urbe S, Dove SK, Tenza D, Raposo G, Clague MJ (2001) Characterization of MTMR3. An inositol lipid 3-phosphatase with novel substrate specificity. Curr Biol 11:1600-1605
17. Kim SA, Taylor GS, Torgersen KM, Dixon JE (2002) Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. J Biol Chem 277:4526-4531
18. Laporte J, Liaubet L, Blondeau F, Tronchere H, Mandel JL, Payrastre B (2002) Functional redundancy in the myotubularin family. Biochem Biophys Res Commun 291:305-312
19. Berger P, Bonneick S, Willi S, Wymann M, Suter U (2002) Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 11:1569-1579
20. Mochizuki Y, Majerus PW (2003) Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. Proc Natl Acad Sci USA 100:9768-9773
21. Tronchere H, Laporte J, Pendaries C, Chaussade C, Liaubet L, Pirola L, Mandel JL, Payrastre B (2004) Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem 279:7304-7312
22. Taylor GS, Maehama T, Dixon JE (2000) Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci USA 97:8910-8915
23. Begley MJ, Taylor GS, Brock MA, Ghosh P, Woods VL, Dixon JE (2006) Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. Proc Natl Acad Sci USA 103:927-932
24. Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Majerus PW, Mitchell CA (2003) Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Proc Natl Acad Sci USA 100:8660-8665
25. Lorenzo O, Urbe S, Clague MJ (2006) Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosomerelated functions. J Cell Sci 119:2953-2959
26. Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U (2006) Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet 15:569-579
27. Robinson FL, Dixon JE (2005) The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. J Biol Chem 280:31699-31707
28. Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE (2003) Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Proc Natl Acad Sci USA 100:4492-4497
29. De Matteis MA, Godi A (2004) PI-loting membrane traffic. Nat Cell Biol 6:487-492
30. Simonsen A, Wurmser AE, Emr SD, Stenmark H (2001) The role of phosphoinositides in membrane transport. Curr Opin Cell Biol 13:485-492
31. Balla T (2005) Inositol-lipid binding motifs: signal integrators through protein-lipid and protein-protein interactions. J Cell Sci 118:2093-2104
32. Lemmon MA (2003) Phosphoinositide recognition domains. Traffic 4:201-213
33. Schu PV, Takegawa K, Fry MJ, Stack JH, Waterfield MD, Emr SD (1993) Phosphatidylinositol 3-kinase encoded by yeast VPS34 gene essential for protein sorting. Science 260:88-91
34. Zerial M, McBride H (2001) Rab proteins as membrane organizers. Nat Rev Mol Cell Biol 2:107-117
35. Gary JD, Wurmser AE, Bonangelino CJ, Weisman LS, Emr SD (1998) Fab1p is essential for PtdIns(3)P 5-kinase activity and the maintenance of vacuolar size and membrane homeostasis. J Cell Biol 143:65-79
36. Ikonomov OC, Sbrissa D, Shisheva A (2001) Mammalian cell morphology and endocytic membrane homeostasis require enzymatically active phosphoinositide 5-kinase PIKfyve. J Biol Chem 276:26141-147
37. Odorizzi G, Babst M, Emr SD (1998) Fab1p PtdIns(3)P 5-kinase function essential for protein sorting in the multivesicular body. Cell 95:847-858
38. Dove SK, McEwen RK, Mayes A, Hughes DC, Beggs JD, Michell RH (2002) Vac14 controls PtdIns(3,5)P(2) synthesis and Fab1-dependent protein trafficking to the multivesicular body. Curr Biol 12:885-893
39. Michell RH, Heath VL, Lemmon MA, Dove SK (2006) Phosphatidylinositol 3,5-bisphosphate: metabolism and cellular functions. Trends Biochem Sci 31:52-63
40. Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch JL, Mandel JL (2002) The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci 115:3105-3117
41. Dang H, Li Z, Skolnik EY, Fares H (2004) Disease-related myotubularins function in endocytic traffic in Caenorhabditis elegans. Mol Biol Cell 15:189-196
42. Chaussade C, Pirola L, Bonnafous S, Blondeau F, Brenz-Verca S, Tronchere H, Portis F, Rusconi S, Payrastre B, Laporte J et al (2003) Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport. Mol Endocrinol 17:2448-2460
43. Srivastava S, Ko K, Choudhury P, Li Z, Johnson AK, Nadkarni V, Unutmaz D, Coetzee WA, Skolnik EY (2006) Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells. Mol Cell Biol 26:5595-5602
44. Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S et al (2000) MTM1 mutations in X-linked myotubular myopathy. Hum Mutat 15:393-409
45. Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S (2002) Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat 19:114-121
46. Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB et al (2003) Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet 112:135-142
47. Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (1996) A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 13:175-182
48. Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, Mandel JL (2002) The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci USA 99:15060-15065
49. Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML et al (2002) Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. Gene 283:17-26
50. Li JC, Samy ET, Grima J, Chung SS, Mruk D, Lee WM, Silvestrini B, Cheng CY (2000) Rat testicular myotubularin, a protein tyrosine phosphatase expressed by Sertoli and germ cells, is a potential marker for studying cell-cell interactions in the rat testis. J Cell Physiol 185:366-385
51. Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R et al (2003) Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet 12:1713-1723
52. Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O et al (1996) Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology 46:1318-1324
53. Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V et al (2004) Clinicopathological and genetic study of early-onset demyelinating neuropathy. Brain 127:2540-2550
54. Houlden H, King RH, Wood NW, Thomas PK, Reilly MM (2001) Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. Brain 124:907-915
55. Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H (2002) A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. Neuromuscul Disord 12:869-873
56. Firestein R, Cleary ML (2001) Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties. J Cell Sci 114:2921-2927
57. Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL et al (2004) A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). Neurology 63:1327-1328
58. Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk DD, Feltri ML et al (2004) Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol 167:711-721
59. Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML et al (2005) Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. J Neurosci 25:8567-8577
60. Firestein R, Nagy PL, Daly M, Huie P, Conti M, Cleary ML (2002) Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1. J Clin Invest 109:1165-1172
61. Bonneick S, Boentert M, Berger P, Atanasoski S, Mantei N, Wessig C, Toyka KV, Young P, Suter U (2005) An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 14:3685-3695
62. Pirola L, Bonnafous S, Johnston AM, Chaussade C, Portis F, Van Obberghen E (2003) Phosphoinositide 3-kinase-mediated reduction of insulin receptor substrate-1/2 protein expression via different mechanisms contributes to the insulin-induced desensitization of its signaling pathways in L6 muscle cells. J Biol Chem 278:15641-15651
63. Kim E, Sheng M (2004) PDZ domain proteins of synapses. Nat Rev Neurosci 5:771-781
64. Lee OK, Frese KK, James JS, Chadda D, Chen ZH, Javier RT, Cho KO (2003) Discs-large and strabismus are functionally linked to plasma membrane formation. Nat Cell Biol 5:987-993
65. Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA (2003) Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. Mol Cell 12:1391-1402