The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling

Journal of Cellular and Molecular Medicine

Volumn 15, Issue 2, 2011, Pages 307-315

  Berger, Philipp ^a,b   Tersar, Kristian ^b   Ballmer Hofer, Kurt ^a   Suter, Ueli ^b  

^a PAUL SCHERRER INSTITUTE   (Switzerland)

^b ETH ZURICH   (Switzerland)

Author keywords

Akt; Charcot Marie Tooth disease; EGFR; Myotubularin; Neuropathy

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; MTMR2 PROTEIN, MOUSE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE; PHOSPHATIDYLINOSITOL 3 PHOSPHATE; PHOSPHATIDYLINOSITOL 3,5 DIPHOSPHATE; PHOSPHATIDYLINOSITOL 3,5-DIPHOSPHATE; POLYPHOSPHOINOSITIDE; PROTEIN KINASE B; SBF2 PROTEIN, MOUSE;

ANIMAL; ARTICLE; BIOSYNTHESIS; CELL LINE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; METABOLISM; MOUSE; MOUSE MUTANT; SIGNAL TRANSDUCTION;

ANIMALS; CELL LINE; CHARCOT-MARIE-TOOTH DISEASE; MICE; MICE, KNOCKOUT; PHOSPHATIDYLINOSITOL PHOSPHATES; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; PROTO-ONCOGENE PROTEINS C-AKT; RECEPTOR, EPIDERMAL GROWTH FACTOR; SIGNAL TRANSDUCTION;

EID: 79951870239     PISSN: 15821838     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1582-4934.2009.00967.x     Document Type: Article

References (54)

1. Laporte J, Hu LJ, Kretz C, et al A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996; 13: 175-82.
2. Sarnat HB. Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. Can J Neurol Sci. 1990; 17: 109-23.
3. Bolino A, Muglia M, Conforti FL, et al Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubu-larin-related protein-2. Nat Genet. 2000; 25: 17-9.
4. Senderek J, Bergmann C, Weber S, et al Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet. 2003; 12: 349-56.
5. Azzedine H, Bolino A, Taieb T, et al Mutations in MTMR13, a new pseudophos-phatase 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. 2003; 72: 1141-53.
6. Robinson FL, Dixon JE. Myotubularin phosphatases: policing 3-phosphoinosi-tides. Trends Cell Biol. 2006; 16: 403-12.
7. Berger P, Schaffitzel C, Berger I, et al Membrane association of myotubularin-related protein 2 is mediated by a pleck-strin homology-GRAM domain and a coiled-coil dimerization module. Proc Natl Acad Sci USA. 2003; 100: 12177-82.
8. Lorenzo O, Urbe S, Clague MJ. Systematic analysis of myotubularins: heteromeric interactions, subcellular local-isation and endosome related functions. J Cell Sci. 2006; 119: 2953-9.
9. Cui X, De Vivo I, Slany R, et al Association of SET domain and myotubu-larin-related proteins modulates growth control. Nat Genet. 1998; 18: 331-7.
10. Berger P, Berger I, Schaffitzel C, et al Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet. 2006; 15: 569-79.
11. Berger P, Bonneick S, Willi S, et al Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2002; 11: 1569-79.
12. Firestein R, Cleary ML. Pseudo-phos-phatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties. J Cell Sci. 2001; 114: 2921-7.
13. Nandurkar HH, Layton M, Laporte J, et al Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Proc Natl Acad Sci USA. 2003; 100: 8660-5.
14. Suter U. Phosphoinositides and Charcot-Marie-tooth disease: new keys to old questions. Cell Mol Life Sci. 2007; 64: 3261-5.
15. Zuchner S, Noureddine M, Kennerson M, et al Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005; 37: 289-94.
16. Kachhap SK, Faith D, Qian DZ, et al The N-Myc down regulated Gene1 (NDRG1) Is a Rab4a effector involved in vesicular recycling of E-cadherin. PLoS ONE. 2007; 2: e844. 1-11.
17. Delague V, Jacquier A, Hamadouche T, et al Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007; 81: 1-16.
18. Stendel C, Roos A, Deconinck T, et al Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007; 81: 158-64.
19. Chow CY, Zhang Y, Dowling JJ, et al Mutation of FIG4 causes neurodegenera-tion in the pale tremor mouse and patients with CMT4J. Nature. 2007; 448: 68-72.
20. Di Paolo G, De Camilli P. Phosphoinositides in cell regulation and membrane dynamics. Nature. 2006; 443: 651-7.
21. Balla T. Inositol-lipid binding motifs: signal integrators through protein-lipid and protein-protein interactions. J Cell Sci. 2005; 118: 2093-104.
22. Sbrissa D, Ikonomov OC, Shisheva A. Phosphatidylinositol 3-phosphate-interacting domains in PIKfyve. Binding specificity and role in PIKfyve. Endomenbrane localization. J Biol Chem. 2002; 277: 6073-9.
23. Rutherford AC, Traer C, Wassmer T, et al The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport. J Cell Sci. 2006; 119: 3944-57.
24. Dove SK, Cooke FT, Douglas MR, et al Osmotic stress activates phosphatidylinos-itol-3, 5-bisphosphate synthesis. Nature. 1997; 390: 187-92.
25. Jones DR, Gonzalez-Garcia A, Diez E, et al The identification of phosphatidyli-nositol 3, 5-bisphosphate in T- lymphocytes and its regulation by interleukin-2. J Biol Chem. 1999; 274: 18407-13.
26. Tsujita K, Itoh T, Ijuin T, et al Myotubularin regulates the function of the late endosome through the GRAM domain-phosphatidylinositol 3, 5-bisphosphate interaction. J Biol Chem. 2004; 279: 13817-24.
27. Seet LF, Hong W. The Phox (PX) domain proteins and membrane traffic. Biochim Biophys Acta. 2006; 1761: 878-96.
28. Dove SK, Piper RC, McEwen RK, et al Svp1p defines a family of phosphatidyli-nositol 3, 5-bisphosphate effectors. EMBO J. 2004; 23: 1922-33.
29. Whitley P, Reaves BJ, Hashimoto M, et al Identification of mammalian Vps24p as an effector of phosphatidylinositol 3, 5-bisphosphate-dependent endosome compartmentalization. J Biol Chem. 2003; 278: 38786-95.
30. Kurten RC, Cadena DL, Gill GN. Enhanced degradation of EGF receptors by a sorting nexin, SNX1. Science. 1996; 272: 1008-10.
31. Carlton J, Bujny M, Peter BJ, et al Sorting nexin-1 mediates tubular endosome-to-TGN transport through coincidence sensing of high- curvature membranes and 3-phosphoinositides. Curr Biol. 2004; 14: 1791-800.
32. Bonneick S, Boentert M, Berger P, et al An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2005; 14: 3685-95.
33. Tersar K, Boentert M, Berger P, et al Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. Hum Mol Genet. 2007; 16: 2991-3001.
34. Ikonomov OC, Sbrissa D, Foti M, et al PIKfyve controls fluid phase endocytosis but not recycling/degradation of endocy-tosed receptors or sorting of procathepsin D by regulating multivesicular body mor-phogenesis. Mol Biol Cell. 2003; 14: 4581-91.
35. Worby CA, Dixon JE. Sorting out the cellular functions of sorting nexins. Nat Rev Mol Cell Biol. 2002; 3: 919-31.
36. Gullapalli A, Garrett TA, Paing MM, et al A role for sorting nexin 2 in epidermal growth factor receptor down-regulation: evidence for distinct functions of sorting nexin 1 and 2 in protein trafficking. Mol Biol Cell. 2004; 15: 2143-55.
37. Liu H, Liu ZQ, Chen CX, et al Inhibitory regulation of EGF receptor degradation by sorting nexin 5. Biochem Biophys Res Commun. 2006; 342: 537-46.
38. Ogata T, Iijima S, Hoshikawa S, et al Opposing extracellular signal-regulated kinase and Akt pathways control Schwann cell myelination. J Neurosci. 2004; 24: 6724-32.
39. Cao C, Backer JM, Laporte J, et al Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking. Mol Biol Cell. 2008; 19: 3334-46.
40. Begley MJ, Taylor GS, Kim SA, et al Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. Mol Cell. 2003; 12: 1391-402.
41. Shisheva A, Rusin B, Ikonomov OC, et al Localization and insulin-regulated relocation of phosphoinositide 5- kinase PIKfyve in 3T3-L1 adipocytes. J Biol Chem. 2001; 276: 11859-69.
42. Cabezas A, Pattni K, Stenmark H. Cloning and subcellular localization of a human phosphatidylinositol 3-phosphate 5-kinase, PIKfyve/Fab1. Gene. 2006; 371: 34-41.
43. Bache KG, Stuffers S, Malerod L, et al The ESCRT-III subunit hVps24 is required for degradation but not silencing of the epidermal growth factor receptor. Mol Biol Cell. 2006; 17: 2513-23.
44. Yan Q, Hunt PR, Frelin L, et al mVps24p functions in EGF receptor sorting/trafficking from the early endosome. Exp Cell Res. 2005; 304: 265-73.
45. Pendaries C, Tronchere H, Arbibe L, et al PtdIns5P activates the host cell PI3-kinase/Akt pathway during Shigella flexneri infection. EMBO J. 2006; 25: 1024-34.
46. Knodler LA, Finlay BB, Steele-Mortimer O. The Salmonella effector protein SopB protects epithelial cells from apoptosis by sustained activation of Akt. J Biol Chem. 2005; 280: 9058-64.
47. Tronchere H, Laporte J, Pendaries C, et al Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem. 2004; 279: 7304-12.
48. Bjorge JD, Chan TO, Antczak M, et al Activated type I phosphatidylinositol kinase is associated with the epidermal growth factor (EGF) receptor following EGF stimulation. Proc Natl Acad Sci USA. 1990; 87: 3816-20.
49. Quattrone A, Gambardella A, Bono F, et al Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysio-logic, and genetic aspects of a large family. Neurology. 1996; 46: 1318-24.
50. Ikonomov OC, Sbrissa D, Mlak K, et al Requirement for PIKfyve enzymatic activity in acute and long-term insulin cellular effects. Endocrinology. 2002; 143: 4742-54.
51. Khajavi M, Inoue K, Wiszniewski W, et al Curcumin treatment abrogates endo-plasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet. 2005; 77: 841-50.
52. Khajavi M, Shiga K, Wiszniewski W, et al Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007; 81: 438-53.
53. Berger P, Niemann A, Suter U. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia. 2006; 54: 243-57.
54. Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006; 8: 217-42.