Mtmr13/Sbf2-deficient mice: An animal model for CMT4B2

Human Molecular Genetics

Volumn 16, Issue 24, 2007, Pages 2991-3001

  Tersar, Kristian ^a   Boentert, Matthias ^b   Berger, Philipp ^a,c   Bonneick, Sonja ^a   Wessig, Carsten ^d   Toyka, Klaus V ^d   Young, Peter ^d   Suter, Ueli ^a  

^a ETH ZURICH   (Switzerland)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c PAUL SCHERRER INSTITUTE   (Switzerland)

^d UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLE PROTEIN; MYOTUBULARIN RELATED PROTEIN 13; MYOTUBULARIN RELATED PROTEIN 2; SET BINDING FACTOR 2; UNCLASSIFIED DRUG;

ACTION POTENTIAL; ANIMAL CELL; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; ENZYME ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; MOTOR PERFORMANCE; MOUSE; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NERVE FIBER DEGENERATION; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FUNCTION;

ANIMALS; BEHAVIOR, ANIMAL; CHARCOT-MARIE-TOOTH DISEASE; DISEASE MODELS, ANIMAL; ELECTROPHYSIOLOGY; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MOTOR NEURONS; NEURONS, AFFERENT; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; SCIATIC NERVE;

ANIMALIA; MUS;

EID: 36248934715     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm257     Document Type: Article

References (36)

1. Dyck, P.J., Chance, P., Lebo, R. and Carney-J.A. (1993) Hereditary motor and sensory neuropathies. Dyek, P.J., Thomas, P.K., Grffin, J.W., Low, P.A. and Poduslo, J.F. (eds). Peripheral Neuropathy, Philadelphia.
2. Niemann, A., Berger, P. and Suter, U. (2006) Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med., 8 217-242.
3. Berger, P., Niemann, A. and Suter, U. (2006) Schwarm cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia, 54, 243-257.
4. Skre, H. (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet., 6, 98-118.
5. Suter, U. and Scherer, S.S. (2003) Disease mechanisms in inherited neuropathies. Nat. Rev. Neurosci., 4, 714-726.
6. Zuchner, S. and Vance, J.M. (2006) Mechanisms of disease: A molecular genetic update on hereditary axonal neuropathies. Nat. Clin. Pract. Neurol., 2, 45-53.
7. Quattrone, A., Gambardella, A., Bono, F., Aguglia, U., Bolino, A., Bruni, A.C., Montesi, M.P., Oliveri, R.L., 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.
8. Gambardella, A., Bolino, A., Muglia, M., Valentino, P., Bono, F., Oliveri, R.L., Sabatelli, M., Brancolini, V., Van Broeckhoven, C., Romeo, G. et al. (1998) Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology, 50, 799-801.
9. Othmane, K.B., Johnson, E., Menold, M., Graham, F.L., Hamida, M.B., Hasegawa, O., Rogala, A.D., Ohnishi, A., Pericak-Vance, M., Hentati, F. et al. (1999) Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Genomics, 62, 344- 349.
10. Bolino, A., Muglia, M., Conforti, F.L., LeGuern, E., Salih, M.A., Georgiou, D.M., 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.
11. 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.
12. Senderek, J., Bergmann, C., Weber, S., Ketelsen, U.P., Schorle, H., Rudnik-Schoneborn, S., Buttner, R., Buchheim, E. and 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.
13. Bolino, A., Levy, E.R., Muglia, M., Conforti, F.L., LeGuern, E., Salih, M.A., Georgiou, D.M., Christodoulou, R.K., Hausmanowa-Petrusewicz, I., Mandich, P. et al. (2000) Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. Genomics, 63, 271-278.
14. Bolino, A., Bolis, A., Previtali, S.C., Dina, G., Bussini, S., Dati, G., Amadio, S., Del Carro, U., Mruk, D.D., Feltri, M.L. et al. (2004) Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J. Cell Biol., 167, 711-721.
15. Bonneick, S., Boentert, M., Berger, P., Atanasoski, S., Mantei, N., Wessig, C., Toyka, K.V., Young, P. and Suter, U. (2005) An animal model for Charcot-Marie-Tooth disease type 4B1. Hum. Mol. Genet., 14 3685-3895.
16. Robinson, F.L. and Dixon, J.E. (2006) Myotubularin phosphatases: policing 3-phosphoinositides. Trends Cell Biol., 16, 403-412.
17. Laporte, J., Bedez, F., Bolino, A. and Mandel, J.L. (2003) Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum. Mol. Genet., 12 (Spec No. 2), R285-R292.
18. Berger, P., Bonneick, S., Willi, S., Wymann, M. and 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.
19. Chow, C.Y., Zhang, Y., Dowling, J.J., Jin, N., Adamska, M., Shiga, K., Szigeti, K., Shy, M.E., Li, J., Zhang, X. et al. (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature, 448, 68-72.
20. Berger, P., Berger, I., Schaffitzel, C., Tersar, K., Volkmer, B. and 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.
21. Begley, M.J., Taylor, G.S., Kim, S.A., Veine, D.M., Dixon, J.E. and Stuckey, J.A. (2003) Crystal structure of a phosphoinositide phosphatase, MTMR2: Insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. Mol. Cell., 12, 1391-1402.
22. Robinson, F.L. and Dixon, J.E. (2005) The phosphoinositide 3-phosphatase MTMR2 associates with MTMR13, a novel membrane-associated. pseudophosphatase also mutated in type 4B Charcot-Marie-tooth disease. J. Biol. Chem., 280, 31699-31707.
23. Bolis, A., Coviello, S., Bussini, S., Dina, G., Pardini, C., Previtali, S.C., Malaguti, M., Morana, P., Del Carro, U., Feltri, M.L. 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.
24. Thumberr, T., Benninger, Y., Wu, X., Chrostek, A., Krause, S.M., Nave, K.A., Franklin, R.J., Brakebusch, C., Suter, U. and Relvas, J.B. (2006) Cdc42 and Rac1 signaling are both required for and act synergistically in the correct formation of myelin sheaths in the CNS. J. Neurosci. 26, 10110-10119.
25. Sahenk, Z., Nagaraja, H.N., McCracken, B.S., King, W.M., Freimer, M.L., Cedarbaum, J.M. and Mendell, J.R. (2005) NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology, 65, 681-689.
26. Sereda, M.W., Meyer zu Horste, G., Suter, U., Uzma, N. and Nave, K.A. (2003) Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat. Med., 9, 1533-1537.
27. Khajavi, M., Shiga, K., Wiszniewski, W., He, F., Shaw, C.A., Yan, J., Wensel, T.G., Snipes, G.J. and Lupski, J.R. (2007) Oral curcumin mitigates the clinical and neuropathological phenotype of the Trembler-J mouse: A potential therapy for inherited neuropathies. Am. J. Hum. Genet., 81, 438-453.
28. Passage, E., Norreel, J.C., Noack-Fraissignes, P., Sanguedolce, V., Pizant, J., Thirion, X., Robaglia-Schlupp, A., Pellissier, J.F. and Fontes, M. (2004) Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat. Med., 10, 396-401.
29. Berger, P., Schaffitzel, C., Berger, I., Ban, N. and 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.
30. Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., Kirschner, J., Korinthenberg, R., Ketelsen, U.P., Battaloglu, E. et al. (2007) Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am. J. Hum. Genet., 81, 158-164.
31. Delague, V., Jacquier, A., Hamadouche, T., Poitelon, Y., Baudot, C., Boccaccio, I., Chouery, E., Chaouch, M., Kassouri, K, Jabbour, R. et al. (2007) Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosornal Recessive Charcot-Marie-Tooth Type 4H. Am. J. Hum. Genet., 81: 1-16.
32. Previtali, S.C., Zerega, B., Sherman, D.L., Brophy, P.J., Dina, G., King, R.H., Salih, M.M., 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, 4713-1723.
33. Skarnes, W.C. (2000) Gene trapping methods for the identification and functional analysis of cell surface proteins in mice. Methods Enzymol., 328, 592-615.
34. Atanasoski, S., Notterpek, L., Lee, H.Y., Castagner, F., Young, P., Ehrengruber, M.U., Meijer, D., Sommer, L., Stavnezer, E., Colmenares, C. et al. (2004) The protooncogene Ski controls Schwann cell proliferation and myelination. Neuron, 43, 499-511.
35. Zielasek, J., Martini, R. and Toyka, K.V. (1996) Functional abnormalities in PO-deficient mice resemble human hereditary neuropathies linked to PO gene mutations. Muscle Nerve, 19, 946-952.
36. Martini, R., Zielasek, J., Toyka, K.V., Giese, K.P. and Schachner, M. (1995) Protein zero (PO)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat. Genet., 11, 281-286.