메뉴 건너뛰기




Volumn 21, Issue 19, 2012, Pages 4225-4236

A polyglutamine expansion disease protein sequesters PTIP to attenuate DNA repair and increase genomic instability

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; PAX TRANSACTIVATION DOMAIN INTERACTING PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

EID: 84866419085     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds246     Document Type: Article
Times cited : (20)

References (52)
  • 1
    • 77949775195 scopus 로고    scopus 로고
    • Repeat expansion disease: progress and puzzles in disease pathogenesis
    • La Spada, A.R. and Taylor, J.P. (2010) Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat. Rev. Genet., 11, 247-258.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 247-258
    • La Spada, A.R.1    Taylor, J.P.2
  • 2
    • 78049430399 scopus 로고    scopus 로고
    • Polyglutamine diseases: where does toxicity come from? what is toxicity? where are we going? J
    • Takahashi, T., Katada, S. and Onodera, O. (2010) Polyglutamine diseases: where does toxicity come from? what is toxicity? where are we going? J. Mol. Cell. Biol., 2, 180-191.
    • (2010) Mol. Cell. Biol. , vol.2 , pp. 180-191
    • Takahashi, T.1    Katada, S.2    Onodera, O.3
  • 3
    • 0037194896 scopus 로고    scopus 로고
    • Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila
    • Takeyama, K., Ito, S., Yamamoto, A., Tanimoto, H., Furutani, T., Kanuka, H., Miura, M., Tabata, T. and Kato, S. (2002) Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron, 35, 855-864.
    • (2002) Neuron , vol.35 , pp. 855-864
    • Takeyama, K.1    Ito, S.2    Yamamoto, A.3    Tanimoto, H.4    Furutani, T.5    Kanuka, H.6    Miura, M.7    Tabata, T.8    Kato, S.9
  • 4
    • 65549163327 scopus 로고    scopus 로고
    • Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy
    • Montie, H.L., Cho, M.S., Holder, L., Liu, Y., Tsvetkov, A.S., Finkbeiner, S. and Merry, D.E. (2009) Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy. Hum. Mol. Genet., 18, 1937-1950.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1937-1950
    • Montie, H.L.1    Cho, M.S.2    Holder, L.3    Liu, Y.4    Tsvetkov, A.S.5    Finkbeiner, S.6    Merry, D.E.7
  • 5
    • 0032475941 scopus 로고    scopus 로고
    • Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice
    • Klement, I.A., Skinner, P.J., Kaytor, M.D., Yi, H., Hersch, S.M., Clark, H.B., Zoghbi, H.Y. and Orr, H.T. (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell, 95, 41-53.
    • (1998) Cell , vol.95 , pp. 41-53
    • Klement, I.A.1    Skinner, P.J.2    Kaytor, M.D.3    Yi, H.4    Hersch, S.M.5    Clark, H.B.6    Zoghbi, H.Y.7    Orr, H.T.8
  • 6
    • 0033811788 scopus 로고    scopus 로고
    • Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human
    • Huynh, D.P., Figueroa, K., Hoang, N. and Pulst, S.M. (2000) Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat. Genet., 26, 44-50.
    • (2000) Nat. Genet. , vol.26 , pp. 44-50
    • Huynh, D.P.1    Figueroa, K.2    Hoang, N.3    Pulst, S.M.4
  • 7
    • 14644419638 scopus 로고    scopus 로고
    • Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation
    • Bowman, A.B., Yoo, S.Y., Dantuma, N.P. and Zoghbi, H.Y. (2005) Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum. Mol. Genet., 14, 679-691.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 679-691
    • Bowman, A.B.1    Yoo, S.Y.2    Dantuma, N.P.3    Zoghbi, H.Y.4
  • 9
    • 7244236320 scopus 로고    scopus 로고
    • Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
    • Arrasate, M., Mitra, S., Schweitzer, E.S., Segal, M.R. and Finkbeiner, S. (2004) Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature, 431, 805-810.
    • (2004) Nature , vol.431 , pp. 805-810
    • Arrasate, M.1    Mitra, S.2    Schweitzer, E.S.3    Segal, M.R.4    Finkbeiner, S.5
  • 10
    • 0032475931 scopus 로고    scopus 로고
    • Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
    • Saudou, F., Finkbeiner, S., Devys, D. and Greenberg, M.E. (1998) Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell, 95, 55-66.
    • (1998) Cell , vol.95 , pp. 55-66
    • Saudou, F.1    Finkbeiner, S.2    Devys, D.3    Greenberg, M.E.4
  • 16
    • 33749042331 scopus 로고    scopus 로고
    • Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration
    • Cui, L., Jeong, H., Borovecki, F., Parkhurst, C.N., Tanese, N. and Krainc, D. (2006) Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell, 127, 59-69.
    • (2006) Cell , vol.127 , pp. 59-69
    • Cui, L.1    Jeong, H.2    Borovecki, F.3    Parkhurst, C.N.4    Tanese, N.5    Krainc, D.6
  • 17
    • 29244462838 scopus 로고    scopus 로고
    • In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets
    • Zhai, W., Jeong, H., Cui, L., Krainc, D. and Tjian, R. (2005) In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets. Cell, 123, 1241-1253.
    • (2005) Cell , vol.123 , pp. 1241-1253
    • Zhai, W.1    Jeong, H.2    Cui, L.3    Krainc, D.4    Tjian, R.5
  • 18
    • 33748695582 scopus 로고    scopus 로고
    • Transcriptional alterations and chromatin remodeling in polyglutamine diseases
    • Helmlinger, D., Tora, L. and Devys, D. (2006) Transcriptional alterations and chromatin remodeling in polyglutamine diseases. Trends Genet., 22, 562-570.
    • (2006) Trends Genet , vol.22 , pp. 562-570
    • Helmlinger, D.1    Tora, L.2    Devys, D.3
  • 19
    • 55649112257 scopus 로고    scopus 로고
    • Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? Curr
    • Jordan, C.L. and Lieberman, A.P. (2008) Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? Curr. Opin. Pharmacol., 8, 752-758.
    • (2008) Opin. Pharmacol. , vol.8 , pp. 752-758
    • Jordan, C.L.1    Lieberman, A.P.2
  • 20
    • 33746077664 scopus 로고    scopus 로고
    • Pathogenesis, animal models and therapeutics in spinal and bulbar muscular atrophy (SBMA)
    • Katsuno, M., Adachi, H., Waza, M., Banno, H., Suzuki, K., Tanaka, F., Doyu, M. and Sobue, G. (2006) Pathogenesis, animal models and therapeutics in spinal and bulbar muscular atrophy (SBMA). Exp. Neurol., 200, 8-18.
    • (2006) Exp. Neurol. , vol.200 , pp. 8-18
    • Katsuno, M.1    Adachi, H.2    Waza, M.3    Banno, H.4    Suzuki, K.5    Tanaka, F.6    Doyu, M.7    Sobue, G.8
  • 22
  • 25
    • 62849122468 scopus 로고    scopus 로고
    • DNA breakage and induction of DNA damage response proteins precede the appearance of visible mutant huntingtin aggregates
    • Illuzzi, J., Yerkes, S., Parekh-Olmedo, H. and Kmiec, E.B. (2009) DNA breakage and induction of DNA damage response proteins precede the appearance of visible mutant huntingtin aggregates. J. Neurosci. Res., 87, 733-747.
    • (2009) J. Neurosci. Res. , vol.87 , pp. 733-747
    • Illuzzi, J.1    Yerkes, S.2    Parekh-Olmedo, H.3    Kmiec, E.B.4
  • 27
    • 34848880490 scopus 로고    scopus 로고
    • The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex
    • Patel, S.R., Kim, D., Levitan, I. and Dressler, G.R. (2007) The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex. Dev. Cell, 13, 580-592.
    • (2007) Dev. Cell , vol.13 , pp. 580-592
    • Patel, S.R.1    Kim, D.2    Levitan, I.3    Dressler, G.R.4
  • 28
    • 65149092552 scopus 로고    scopus 로고
    • Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage
    • Gong, Z., Cho, Y.W., Kim, J.E., Ge, K. and Chen, J. (2009) Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage. J. Biol. Chem., 284, 7284-7293.
    • (2009) J. Biol. Chem. , vol.284 , pp. 7284-7293
    • Gong, Z.1    Cho, Y.W.2    Kim, J.E.3    Ge, K.4    Chen, J.5
  • 29
    • 67650549751 scopus 로고    scopus 로고
    • PTIP regulates 53BP1 and SMC1 at the DNA damage sites
    • Wu, J., Prindle, M.J., Dressler, G.R. and Yu, X. (2009) PTIP regulates 53BP1 and SMC1 at the DNA damage sites. J. Biol. Chem., 284, 18078-18084.
    • (2009) J. Biol. Chem. , vol.284 , pp. 18078-18084
    • Wu, J.1    Prindle, M.J.2    Dressler, G.R.3    Yu, X.4
  • 31
    • 79953769946 scopus 로고    scopus 로고
    • Role of PTIP in class switch recombination and long-range chromatin interactions at the immunoglobulin heavy chain locus
    • Schwab, K.R., Patel, S.R. and Dressler, G.R. (2011) Role of PTIP in class switch recombination and long-range chromatin interactions at the immunoglobulin heavy chain locus. Mol. Cell. Biol., 31, 1503-1511.
    • (2011) Mol. Cell. Biol. , vol.31 , pp. 1503-1511
    • Schwab, K.R.1    Patel, S.R.2    Dressler, G.R.3
  • 32
    • 0037372881 scopus 로고    scopus 로고
    • BRCT domain-containing protein PTIP is essential for progression through mitosis
    • Cho, E.A., Prindle, M.J. and Dressler, G.R. (2003) BRCT domain-containing protein PTIP is essential for progression through mitosis. Mol. Cell. Biol., 23, 1666-1673.
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 1666-1673
    • Cho, E.A.1    Prindle, M.J.2    Dressler, G.R.3
  • 33
    • 67649307977 scopus 로고    scopus 로고
    • Drosophila ptip is essential for anterior/posterior patterning in development and interacts with the PcG and trxG pathways
    • Fang, M., Ren, H., Liu, J., Cadigan, K.M., Patel, S.R. and Dressler, G.R. (2009) Drosophila ptip is essential for anterior/posterior patterning in development and interacts with the PcG and trxG pathways. Development, 136, 1929-1938.
    • (2009) Development , vol.136 , pp. 1929-1938
    • Fang, M.1    Ren, H.2    Liu, J.3    Cadigan, K.M.4    Patel, S.R.5    Dressler, G.R.6
  • 34
    • 0142240342 scopus 로고    scopus 로고
    • BRCT repeats as phosphopeptide-binding modules involved in protein targeting
    • Manke, I.A., Lowery, D.M., Nguyen, A. and Yaffe, M.B. (2003) BRCT repeats as phosphopeptide-binding modules involved in protein targeting. Science, 302, 636-639.
    • (2003) Science , vol.302 , pp. 636-639
    • Manke, I.A.1    Lowery, D.M.2    Nguyen, A.3    Yaffe, M.B.4
  • 35
    • 0142147272 scopus 로고    scopus 로고
    • The BRCT domain is a phospho-protein binding domain
    • Yu, X., Chini, C.C., He, M., Mer, G. and Chen, J. (2003) The BRCT domain is a phospho-protein binding domain. Science, 302, 639-642.
    • (2003) Science , vol.302 , pp. 639-642
    • Yu, X.1    Chini, C.C.2    He, M.3    Mer, G.4    Chen, J.5
  • 36
    • 0037184933 scopus 로고    scopus 로고
    • Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy
    • Walcott, J.L. and Merry, D.E. (2002) Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy. J. Biol. Chem., 277, 50855-50859.
    • (2002) J. Biol. Chem. , vol.277 , pp. 50855-50859
    • Walcott, J.L.1    Merry, D.E.2
  • 37
    • 0032707261 scopus 로고    scopus 로고
    • Polyglutamine repeat length influences human androgen receptor/c-Jun mediated transcription
    • Grierson, A.J., Mootoosamy, R.C. and Miller, C.C. (1999) Polyglutamine repeat length influences human androgen receptor/c-Jun mediated transcription. Neurosci. Lett., 277, 9-12.
    • (1999) Neurosci. Lett. , vol.277 , pp. 9-12
    • Grierson, A.J.1    Mootoosamy, R.C.2    Miller, C.C.3
  • 38
    • 0037101834 scopus 로고    scopus 로고
    • Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor
    • Lieberman, A.P., Harmison, G., Strand, A.D., Olson, J.M. and Fischbeck, K.H. (2002) Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Hum. Mol. Genet., 11, 1967-1976.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1967-1976
    • Lieberman, A.P.1    Harmison, G.2    Strand, A.D.3    Olson, J.M.4    Fischbeck, K.H.5
  • 40
    • 33749442673 scopus 로고    scopus 로고
    • Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model
    • Yu, Z., Dadgar, N., Albertelli, M., Gruis, K., Jordan, C., Robins, D.M. and Lieberman, A.P. (2006) Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J. Clin. Invest., 116, 2663-2672.
    • (2006) J. Clin. Invest. , vol.116 , pp. 2663-2672
    • Yu, Z.1    Dadgar, N.2    Albertelli, M.3    Gruis, K.4    Jordan, C.5    Robins, D.M.6    Lieberman, A.P.7
  • 42
    • 77957011660 scopus 로고    scopus 로고
    • Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy
    • Nedelsky, N.B., Pennuto, M., Smith, R.B., Palazzolo, I., Moore, J., Nie, Z., Neale, G. and Taylor, J.P. (2010) Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron, 67, 936-952.
    • (2010) Neuron , vol.67 , pp. 936-952
    • Nedelsky, N.B.1    Pennuto, M.2    Smith, R.B.3    Palazzolo, I.4    Moore, J.5    Nie, Z.6    Neale, G.7    Taylor, J.P.8
  • 43
    • 79958833141 scopus 로고    scopus 로고
    • The transcription factor Pax5 regulates its target genes by recruiting chromatin-modifying proteins in committed B cells
    • McManus, S., Ebert, A., Salvagiotto, G., Medvedovic, J., Sun, Q., Tamir, I., Jaritz, M., Tagoh, H. and Busslinger, M. (2011) The transcription factor Pax5 regulates its target genes by recruiting chromatin-modifying proteins in committed B cells. EMBO J., 30, 2388-2404.
    • (2011) EMBO J , vol.30 , pp. 2388-2404
    • McManus, S.1    Ebert, A.2    Salvagiotto, G.3    Medvedovic, J.4    Sun, Q.5    Tamir, I.6    Jaritz, M.7    Tagoh, H.8    Busslinger, M.9
  • 44
    • 58249101175 scopus 로고    scopus 로고
    • Rad50 is dispensable for the maintenance and viability of postmitotic tissues
    • Adelman, C.A., De, S. and Petrini, J.H. (2009) Rad50 is dispensable for the maintenance and viability of postmitotic tissues. Mol. Cell. Biol., 29, 483-492.
    • (2009) Mol. Cell. Biol. , vol.29 , pp. 483-492
    • Adelman, C.A.1    De, S.2    Petrini, J.H.3
  • 45
    • 19544389992 scopus 로고    scopus 로고
    • An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability
    • Demuth, I., Frappart, P.O., Hildebrand, G., Melchers, A., Lobitz, S., Stockl, L., Varon, R., Herceg, Z., Sperling, K., Wang, Z.Q. et al. (2004) An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum. Mol. Genet., 13, 2385-2397.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 2385-2397
    • Demuth, I.1    Frappart, P.O.2    Hildebrand, G.3    Melchers, A.4    Lobitz, S.5    Stockl, L.6    Varon, R.7    Herceg, Z.8    Sperling, K.9    Wang, Z.Q.10
  • 46
    • 30344458745 scopus 로고    scopus 로고
    • Abnormalities of germ cell maturation and sertoli cell cytoskeleton in androgen receptor 113 CAG knock-in mice reveal toxic effects of the mutant protein
    • Yu, Z., Dadgar, N., Albertelli, M., Scheller, A., Albin, R.L., Robins, D.M. and Lieberman, A.P. (2006) Abnormalities of germ cell maturation and sertoli cell cytoskeleton in androgen receptor 113 CAG knock-in mice reveal toxic effects of the mutant protein. Am. J. Pathol., 168, 195-204.
    • (2006) Am. J. Pathol. , vol.168 , pp. 195-204
    • Yu, Z.1    Dadgar, N.2    Albertelli, M.3    Scheller, A.4    Albin, R.L.5    Robins, D.M.6    Lieberman, A.P.7
  • 48
    • 0038296998 scopus 로고    scopus 로고
    • Impaired meiotic DNA-damage repair and lack of crossing-over during spermatogenesis in BRCA1 full-length isoform deficient mice
    • Xu, X., Aprelikova, O., Moens, P., Deng, C.X. and Furth, P.A. (2003) Impaired meiotic DNA-damage repair and lack of crossing-over during spermatogenesis in BRCA1 full-length isoform deficient mice. Development, 130, 2001-2012.
    • (2003) Development , vol.130 , pp. 2001-2012
    • Xu, X.1    Aprelikova, O.2    Moens, P.3    Deng, C.X.4    Furth, P.A.5
  • 49
    • 0034658187 scopus 로고    scopus 로고
    • Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex
    • Richard, G.F., Goellner, G.M., McMurray, C.T. and Haber, J.E. (2000) Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. EMBO J., 19, 2381-2390.
    • (2000) EMBO J , vol.19 , pp. 2381-2390
    • Richard, G.F.1    Goellner, G.M.2    McMurray, C.T.3    Haber, J.E.4
  • 50
    • 79953753026 scopus 로고    scopus 로고
    • Expanded CAG/CTG repeat DNA induces a checkpoint response that impacts cell proliferation in Saccharomyces cerevisiae
    • Sundararajan, R. and Freudenreich, C.H. (2011) Expanded CAG/CTG repeat DNA induces a checkpoint response that impacts cell proliferation in Saccharomyces cerevisiae. PLoS Genet., 7, e1001339.
    • (2011) PLoS Genet , vol.7
    • Sundararajan, R.1    Freudenreich, C.H.2
  • 52
    • 33645326509 scopus 로고    scopus 로고
    • Comparison of Affymetrix GeneChip expression measures
    • Irizarry, R.A., Wu, Z. and Jaffee, H.A. (2006) Comparison of Affymetrix GeneChip expression measures. Bioinformatics, 22, 789-794.
    • (2006) Bioinformatics , vol.22 , pp. 789-794
    • Irizarry, R.A.1    Wu, Z.2    Jaffee, H.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.