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Volumn 25, Issue 18, 2016, Pages 3925-3936

SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; MTMR2 PROTEIN; PROTEIN; RENILLA LUCIFERIN 2 MONOOXYGENASE; RNA 18S; RNA ISOFORM; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG; MTMR2 PROTEIN, HUMAN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE; SOX10 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

EID: 85014346728     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw233     Document Type: Article
Times cited : (4)

References (50)
  • 1
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • Skre, H. (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet., 6, 98-118.
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 2
    • 0014301112 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations
    • Dyck, P.J. and Lambert, E.H. (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch. Neurol., 18, 619-625.
    • (1968) Arch. Neurol , vol.18 , pp. 619-625
    • Dyck, P.J.1    Lambert, E.H.2
  • 3
    • 0014301249 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
    • Dyck, P.J. and Lambert, E.H. (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch. Neurol., 18, 603-618.
    • (1968) Arch. Neurol , vol.18 , pp. 603-618
    • Dyck, P.J.1    Lambert, E.H.2
  • 4
    • 84930868020 scopus 로고    scopus 로고
    • New insights on Schwann cell development
    • Monk, K.R., Feltri, M.L. and Taveggia, C. (2015) New insights on Schwann cell development. Glia, 63, 1376-1393.
    • (2015) Glia , vol.63 , pp. 1376-1393
    • Monk, K.R.1    Feltri, M.L.2    Taveggia, C.3
  • 5
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • Harding, A.E. and Thomas, P.K. (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain, 103, 259-280.
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 6
    • 84929966254 scopus 로고    scopus 로고
    • Demyelinating CMT-what's known, what's new and what's in store?
    • Brennan, K.M., Bai, Y. and Shy, M.E. (2015) Demyelinating CMT-what's known, what's new and what's in store? Neurosci. Lett., 596, 14-26.
    • (2015) Neurosci. Lett , vol.596 , pp. 14-26
    • Brennan, K.M.1    Bai, Y.2    Shy, M.E.3
  • 8
    • 0031943222 scopus 로고    scopus 로고
    • Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
    • Warner, L.E., Mancias, P., Butler, I.J., McDonald, C.M., Keppen, L., Koob, K.G. and Lupski, J.R. (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat. Genet., 18, 382-384.
    • (1998) Nat. Genet , vol.18 , pp. 382-384
    • Warner, L.E.1    Mancias, P.2    Butler, I.J.3    McDonald, C.M.4    Keppen, L.5    Koob, K.G.6    Lupski, J.R.7
  • 10
    • 0033554322 scopus 로고    scopus 로고
    • Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
    • Gambardella, A., Bono, F., Muglia, M., Valentino, P. and Quattrone, A. (1999) Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Ann. N Y Acad. Sci., 883, 47-55.
    • (1999) Ann. N Y Acad. Sci , vol.883 , pp. 47-55
    • Gambardella, A.1    Bono, F.2    Muglia, M.3    Valentino, P.4    Quattrone, A.5
  • 11
    • 24944473824 scopus 로고    scopus 로고
    • Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings
    • 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.
    • (2005) J. Neurosci , vol.25 , pp. 8567-8577
    • Bolis, A.1    Coviello, S.2    Bussini, S.3    Dina, G.4    Pardini, C.5    Previtali, S.C.6    Malaguti, M.7    Morana, P.8    Del Carro, U.9    Feltri, M.L.10
  • 12
    • 80755127213 scopus 로고    scopus 로고
    • Quantitative and integrative proteome analysis of peripheral nerve myelin identifies novel myelin proteins and candidate neuropathy loci
    • Patzig, J., Jahn, O., Tenzer, S., Wichert, S.P., de Monasterio-Schrader, P., Rosfa, S., Kuharev, J., Yan, K., Bormuth, I., Bremer, J., et al. (2011) Quantitative and integrative proteome analysis of peripheral nerve myelin identifies novel myelin proteins and candidate neuropathy loci. J. Neurosci., 31, 16369-16386.
    • (2011) J. Neurosci , vol.31 , pp. 16369-16386
    • Patzig, J.1    Jahn, O.2    Tenzer, S.3    Wichert, S.P.4    de Monasterio-Schrader, P.5    Rosfa, S.6    Kuharev, J.7    Yan, K.8    Bormuth, I.9    Bremer, J.10
  • 13
    • 34147201552 scopus 로고    scopus 로고
    • Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells
    • Chojnowski, A., Ravise, N., Bachelin, C., Depienne, C., Ruberg, M., Brugg, B., Laporte, J., Baron-Van Evercooren, A. and LeGuern, E. (2007) Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. Neurobiol. Dis., 26, 323-331.
    • (2007) Neurobiol. Dis , vol.26 , pp. 323-331
    • Chojnowski, A.1    Ravise, N.2    Bachelin, C.3    Depienne, C.4    Ruberg, M.5    Brugg, B.6    Laporte, J.7    Baron-Van Evercooren, A.8    LeGuern, E.9
  • 15
    • 0037096759 scopus 로고    scopus 로고
    • Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1
    • 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.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 1569-1579
    • Berger, P.1    Bonneick, S.2    Willi, S.3    Wymann, M.4    Suter, U.5
  • 16
    • 27944470541 scopus 로고    scopus 로고
    • The structure and regulation of myotubularin phosphatases
    • Begley, M.J. and Dixon, J.E. (2005) The structure and regulation of myotubularin phosphatases. Curr. Opin. Struct.Biol., 15, 614-620.
    • (2005) Curr. Opin. Struct.Biol , vol.15 , pp. 614-620
    • Begley, M.J.1    Dixon, J.E.2
  • 17
    • 36248956630 scopus 로고    scopus 로고
    • Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system
    • Bolis, A., Zordan, P., Coviello, S. and Bolino, A. (2007) Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system. Mol. Neurobiol., 35, 308-316.
    • (2007) Mol. Neurobiol , vol.35 , pp. 308-316
    • Bolis, A.1    Zordan, P.2    Coviello, S.3    Bolino, A.4
  • 18
    • 0041808715 scopus 로고    scopus 로고
    • Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve
    • 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, 1713-1723.
    • (2003) Hum. Mol. Genet , vol.12 , pp. 1713-1723
    • Previtali, S.C.1    Zerega, B.2    Sherman, D.L.3    Brophy, P.J.4    Dina, G.5    King, R.H.6    Salih, M.M.7    Feltri, L.8    Quattrini, A.9    Ravazzolo, R.10
  • 19
    • 79955855085 scopus 로고    scopus 로고
    • Sox10 is required for Schwann-cell homeostasis and myelin maintenance in the adult peripheral nerve
    • Bremer, M., Frob, F., Kichko, T., Reeh, P., Tamm, E.R., Suter, U. and Wegner, M. (2011) Sox10 is required for Schwann-cell homeostasis and myelin maintenance in the adult peripheral nerve. Glia, 59, 1022-1032.
    • (2011) Glia , vol.59 , pp. 1022-1032
    • Bremer, M.1    Frob, F.2    Kichko, T.3    Reeh, P.4    Tamm, E.R.5    Suter, U.6    Wegner, M.7
  • 20
    • 84884754644 scopus 로고    scopus 로고
    • Willard, H. and Ginsburg, G. (eds.). Academic Press, Salt Lake City, in press
    • Antonellis, A. and Green, E.D. (2008) Willard, H. and Ginsburg, G. (eds.), In Genomic and Personalized Medicine. Academic Press, Salt Lake City, in press., pp. 120-130.
    • (2008) Genomic and Personalized Medicine , pp. 120-130
    • Antonellis, A.1    Green, E.D.2
  • 22
    • 0026090057 scopus 로고
    • Expression of the myelin-associated glycoprotein in cultures of immortalized Schwann cells
    • Goda, S., Hammer, J., Kobiler, D. and Quarles, R.H. (1991) Expression of the myelin-associated glycoprotein in cultures of immortalized Schwann cells. J. Neurochem., 56, 1354-1361.
    • (1991) J. Neurochem , vol.56 , pp. 1354-1361
    • Goda, S.1    Hammer, J.2    Kobiler, D.3    Quarles, R.H.4
  • 23
    • 0037102994 scopus 로고    scopus 로고
    • Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies
    • Hai, M., Muja, N., DeVries, G.H., Quarles, R.H. and Patel, P.I. (2002) Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies. J. Neurosci. Res., 69, 497-508.
    • (2002) J. Neurosci. Res , vol.69 , pp. 497-508
    • Hai, M.1    Muja, N.2    DeVries, G.H.3    Quarles, R.H.4    Patel, P.I.5
  • 26
    • 0025909235 scopus 로고
    • Embryonic mouse spinal cord motor neuron hybrid cells
    • Salazar-Grueso, E.F., Kim, S. and Kim, H. (1991) Embryonic mouse spinal cord motor neuron hybrid cells. Neuroreport., 2, 505-508.
    • (1991) Neuroreport , vol.2 , pp. 505-508
    • Salazar-Grueso, E.F.1    Kim, S.2    Kim, H.3
  • 27
    • 0037160524 scopus 로고    scopus 로고
    • Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularinrelated 2 gene, mutated in CMT4B
    • Bolino, A., Marigo, V., Ferrera, F., Loader, J., Romio, L., Leoni, A., Di Duca, M., Cinti, R., Cecchi, C., Feltri, M.L., et al. (2002) Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularinrelated 2 gene, mutated in CMT4B. Gene, 283, 17-26.
    • (2002) Gene , vol.283 , pp. 17-26
    • Bolino, A.1    Marigo, V.2    Ferrera, F.3    Loader, J.4    Romio, L.5    Leoni, A.6    Di Duca, M.7    Cinti, R.8    Cecchi, C.9    Feltri, M.L.10
  • 28
    • 0017759258 scopus 로고
    • Serial passaging and differentiation of myogenic cells isolated from dystrophic mouse muscle
    • Yaffe, D. and Saxel, O. (1977) Serial passaging and differentiation of myogenic cells isolated from dystrophic mouse muscle. Nature, 270, 725-727.
    • (1977) Nature , vol.270 , pp. 725-727
    • Yaffe, D.1    Saxel, O.2
  • 30
    • 79955538881 scopus 로고    scopus 로고
    • Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site
    • Franklin, N.E., Taylor, G.S. and Vacratsis, P.O. (2011) Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site. J. Biol. Chem., 286, 15841-15853.
    • (2011) J. Biol. Chem , vol.286 , pp. 15841-15853
    • Franklin, N.E.1    Taylor, G.S.2    Vacratsis, P.O.3
  • 35
    • 0034663531 scopus 로고    scopus 로고
    • The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences
    • Peirano, R.I. and Wegner, M. (2000) The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences. Nucleic Acids Res., 28, 3047-3055.
    • (2000) Nucleic Acids Res , vol.28 , pp. 3047-3055
    • Peirano, R.I.1    Wegner, M.2
  • 36
    • 76549123335 scopus 로고    scopus 로고
    • SoxE function in vertebrate nervous system development
    • Stolt, C.C. and Wegner, M. (2010) SoxE function in vertebrate nervous system development. Int. J. Biochem. Cell Biol., 42, 437-440.
    • (2010) Int. J. Biochem. Cell Biol , vol.42 , pp. 437-440
    • Stolt, C.C.1    Wegner, M.2
  • 38
    • 0035313320 scopus 로고    scopus 로고
    • The myotubularin family: from genetic disease to phosphoinositide metabolism
    • Laporte, J., Blondeau, F., Buj-Bello, A. and Mandel, J.L. (2001) The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet., 17, 221-228.
    • (2001) Trends Genet , vol.17 , pp. 221-228
    • Laporte, J.1    Blondeau, F.2    Buj-Bello, A.3    Mandel, J.L.4
  • 39
    • 84888107460 scopus 로고    scopus 로고
    • Sox appeal-Sox10 attracts epigenetic and transcriptional regulators in myelinating glia
    • Weider, M., Reiprich, S. and Wegner, M. (2013) Sox appeal-Sox10 attracts epigenetic and transcriptional regulators in myelinating glia. Biol. Chem., 394, 1583-1593.
    • (2013) Biol. Chem , vol.394 , pp. 1583-1593
    • Weider, M.1    Reiprich, S.2    Wegner, M.3
  • 43
    • 0024990130 scopus 로고
    • Alternative splicing of mouse brain 2', 3'-cyclic-nucleotide 3'-phosphodiesterase mRNA
    • Kurihara, T., Monoh, K., Sakimura, K. and Takahashi, Y. (1990) Alternative splicing of mouse brain 2', 3'-cyclic-nucleotide 3'-phosphodiesterase mRNA. Biochem. Biophys. Res. Commun., 170, 1074-1081.
    • (1990) Biochem. Biophys. Res. Commun , vol.170 , pp. 1074-1081
    • Kurihara, T.1    Monoh, K.2    Sakimura, K.3    Takahashi, Y.4
  • 44
    • 0029867989 scopus 로고    scopus 로고
    • A second alternative transcript of the gap junction gene connexin32 is expressed in murine Schwann cells and modulated in injured sciatic nerve
    • Söhl, G., Gillen, C., Bosse, F., Gleichmann, M., Müller, H.W. and Willecke, K. (1996) A second alternative transcript of the gap junction gene connexin32 is expressed in murine Schwann cells and modulated in injured sciatic nerve. Eur. J. Cell Biol., 69, 267-275.
    • (1996) Eur. J. Cell Biol , vol.69 , pp. 267-275
    • Söhl, G.1    Gillen, C.2    Bosse, F.3    Gleichmann, M.4    Müller, H.W.5    Willecke, K.6
  • 45
    • 41549085616 scopus 로고    scopus 로고
    • An in vitro recombination method to convert restriction-and ligation-independent expression vectors
    • Guo, F., Chiang, M.Y., Wang, Y. and Zhang, Y.Z. (2008) An in vitro recombination method to convert restriction-and ligation-independent expression vectors. Biotechnol J., 3, 370-377.
    • (2008) Biotechnol J , vol.3 , pp. 370-377
    • Guo, F.1    Chiang, M.Y.2    Wang, Y.3    Zhang, Y.Z.4
  • 46
    • 0033773233 scopus 로고    scopus 로고
    • 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
    • Li, J.C., Samy, E.T., Grima, J., Chung, S.S., Mruk, D., Lee, W.M., Silvestrini, B. and Cheng, C.Y. (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.
    • (2000) J. Cell Physiol , vol.185 , pp. 366-385
    • Li, J.C.1    Samy, E.T.2    Grima, J.3    Chung, S.S.4    Mruk, D.5    Lee, W.M.6    Silvestrini, B.7    Cheng, C.Y.8
  • 47
    • 84875788003 scopus 로고    scopus 로고
    • The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression
    • Ng, A.A., Logan, A.M., Schmidt, E.J. and Robinson, F.L. (2013) The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. Hum. Mol. Genet., 22, 1493-1506.
    • (2013) Hum. Mol. Genet , vol.22 , pp. 1493-1506
    • Ng, A.A.1    Logan, A.M.2    Schmidt, E.J.3    Robinson, F.L.4
  • 49
    • 67649834440 scopus 로고    scopus 로고
    • ChIP-seq: using high-throughput sequencing to discover protein-DNA interactions
    • Schmidt, D., Wilson, M.D., Spyrou, C., Brown, G.D., Hadfield, J. and Odom, D.T. (2009) ChIP-seq: using high-throughput sequencing to discover protein-DNA interactions. Methods, 48, 240-248.
    • (2009) Methods , vol.48 , pp. 240-248
    • Schmidt, D.1    Wilson, M.D.2    Spyrou, C.3    Brown, G.D.4    Hadfield, J.5    Odom, D.T.6
  • 50
    • 5444223019 scopus 로고    scopus 로고
    • Site-specific analysis of histone methylation and acetylation
    • Umlauf, D., Goto, Y. and Feil, R. (2004) Site-specific analysis of histone methylation and acetylation. Methods Mol. Biol., 287, 99-120.
    • (2004) Methods Mol. Biol , vol.287 , pp. 99-120
    • Umlauf, D.1    Goto, Y.2    Feil, R.3


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