메뉴 건너뛰기




Volumn 42, Issue 4, 2014, Pages 1123-1128

Mechanisms of transcriptional dysregulation in repeat expansion disorders

Author keywords

Fragile X syndrome; Friedreich's ataxia; R loop; Repeat expansion disease; RNA DNA hybrid; Transcription

Indexed keywords

COMPLEMENTARY RNA; RNA POLYMERASE II; SMALL UNTRANSLATED RNA;

EID: 84905822639     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST20140049     Document Type: Conference Paper
Times cited : (29)

References (53)
  • 1
    • 77649144557 scopus 로고    scopus 로고
    • Repeat instability as the basis for human diseases and as a potential target for therapy
    • Lopez Castel, A., Cleary, J.D. and Pearson, C.E. (2010) Repeat instability as the basis for human diseases and as a potential target for therapy. Nat. Rev. Mol. Cell Biol. 11, 165-170
    • (2010) Nat. Rev. Mol. Cell Biol. , vol.11 , pp. 165-170
    • Lopez Castel, A.1    Cleary, J.D.2    Pearson, C.E.3
  • 2
    • 84868100119 scopus 로고    scopus 로고
    • Genome-wide screen identifies pathways that govern GAA/TTC repeat fragility and expansions in dividing and nondividing yeast cells
    • Zhang, Y., Shishkin, A.A., Nishida, Y., Marcinkowski-Desmond, D., Saini, N., Volkov, K.V., Mirkin, S.M. and Lobachev, K.S. (2012) Genome-wide screen identifies pathways that govern GAA/TTC repeat fragility and expansions in dividing and nondividing yeast cells. Mol. Cell 48, 254-265
    • (2012) Mol. Cell , vol.48 , pp. 254-265
    • Zhang, Y.1    Shishkin, A.A.2    Nishida, Y.3    Marcinkowski-Desmond, D.4    Saini, N.5    Volkov, K.V.6    Mirkin, S.M.7    Lobachev, K.S.8
  • 4
    • 0031941447 scopus 로고    scopus 로고
    • The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
    • Bidichandani, S.I., Ashizawa, T. and Patel, P.I. (1998) The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet. 62, 111-121
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 111-121
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 5
    • 0034660695 scopus 로고    scopus 로고
    • The GAA TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
    • Grabczyk, E. and Usdin, K. (2000) The GAA TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res. 28, 2815-2822
    • (2000) Nucleic Acids Res. , vol.28 , pp. 2815-2822
    • Grabczyk, E.1    Usdin, K.2
  • 7
    • 0032486276 scopus 로고    scopus 로고
    • Inhibitory effects of expanded GAA. TTC triplet repeats from intron i of the Friedreich ataxia gene on transcription and replication in vivo
    • Ohshima, K., Montermini, L., Wells, R.D. and Pandolfo, M. (1998) Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem. 273, 14588-14595
    • (1998) J. Biol. Chem. , vol.273 , pp. 14588-14595
    • Ohshima, K.1    Montermini, L.2    Wells, R.D.3    Pandolfo, M.4
  • 9
    • 79953006870 scopus 로고    scopus 로고
    • Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells
    • Kumari, D., Biacsi, R.E. and Usdin, K. (2011) Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells. J. Biol. Chem. 286, 4209-4215
    • (2011) J. Biol. Chem. , vol.286 , pp. 4209-4215
    • Kumari, D.1    Biacsi, R.E.2    Usdin, K.3
  • 11
    • 80455149647 scopus 로고    scopus 로고
    • Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia
    • Kim, E., Napierala, M. and Dent, S.Y. (2011) Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia. Nucleic Acids Res. 39, 8366-8377
    • (2011) Nucleic Acids Res. , vol.39 , pp. 8366-8377
    • Kim, E.1    Napierala, M.2    Dent, S.Y.3
  • 12
    • 34250830900 scopus 로고    scopus 로고
    • Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
    • Greene, E., Mahishi, L., Entezam, A., Kumari, D. and Usdin, K. (2007) Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 35, 3383-3390
    • (2007) Nucleic Acids Res. , vol.35 , pp. 3383-3390
    • Greene, E.1    Mahishi, L.2    Entezam, A.3    Kumari, D.4    Usdin, K.5
  • 14
    • 84893156204 scopus 로고    scopus 로고
    • Transcriptionally repressive chromatin remodelling and CpG methylation in the presence of expanded CTG-repeats at the DM1 locus
    • Brouwer, J.R., Huguet, A., Nicole, A., Munnich, A. and Gourdon, G. (2013) Transcriptionally repressive chromatin remodelling and CpG methylation in the presence of expanded CTG-repeats at the DM1 locus. J. Nucleic Acids 2013, 567435
    • (2013) J. Nucleic Acids , vol.2013 , pp. 567435
    • Brouwer, J.R.1    Huguet, A.2    Nicole, A.3    Munnich, A.4    Gourdon, G.5
  • 18
    • 44949208513 scopus 로고    scopus 로고
    • DNA triplexes and Friedreich ataxia
    • Wells, R.D. (2008) DNA triplexes and Friedreich ataxia. FASEB J. 22, 1625-1634
    • (2008) FASEB J. , vol.22 , pp. 1625-1634
    • Wells, R.D.1
  • 19
    • 78649381794 scopus 로고    scopus 로고
    • New insights into repeat instability: Role of RNA DNA hybrids
    • McIvor, E.I., Polak, U. and Napierala, M. (2010) New insights into repeat instability: role of RNA DNA hybrids. RNA Biol. 7, 551-558
    • (2010) RNA Biol. , vol.7 , pp. 551-558
    • McIvor, E.I.1    Polak, U.2    Napierala, M.3
  • 20
    • 0033120042 scopus 로고    scopus 로고
    • Sticky DNA: Self-association properties of long GAA. TTC repeats in R.R.Y triplex structures from Friedreich's ataxia
    • Sakamoto, N., Chastain, P.D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J.D. and Wells, R.D. (1999) Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. Mol. Cell 3, 465-475
    • (1999) Mol. Cell , vol.3 , pp. 465-475
    • Sakamoto, N.1    Chastain, P.D.2    Parniewski, P.3    Ohshima, K.4    Pandolfo, M.5    Griffith, J.D.6    Wells, R.D.7
  • 21
    • 84860338675 scopus 로고    scopus 로고
    • R loops: From transcription byproducts to threats to genome stability
    • Aguilera, A. and Garcia-Muse, T. (2012) R loops: from transcription byproducts to threats to genome stability. Mol. Cell 46, 115-124
    • (2012) Mol. Cell , vol.46 , pp. 115-124
    • Aguilera, A.1    Garcia-Muse, T.2
  • 22
    • 0037650190 scopus 로고    scopus 로고
    • R-loops at immunoglobulin class switch regions in the chromosomes of stimulated B cells
    • Yu, K., Chedin, F., Hsieh, C.L., Wilson, T.E. and Lieber, M.R. (2003) R-loops at immunoglobulin class switch regions in the chromosomes of stimulated B cells. Nat. Immunol. 4, 442-451
    • (2003) Nat. Immunol. , vol.4 , pp. 442-451
    • Yu, K.1    Chedin, F.2    Hsieh, C.L.3    Wilson, T.E.4    Lieber, M.R.5
  • 23
    • 0141819093 scopus 로고    scopus 로고
    • Cotranscriptionally formed DNA:RNA hybrids mediate transcription elongation impairment and transcription-associated recombination
    • Huertas, P. and Aguilera, A. (2003) Cotranscriptionally formed DNA:RNA hybrids mediate transcription elongation impairment and transcription-associated recombination. Mol. Cell 12, 711-721
    • (2003) Mol. Cell , vol.12 , pp. 711-721
    • Huertas, P.1    Aguilera, A.2
  • 24
    • 34447267682 scopus 로고    scopus 로고
    • Impairment of transcription elongation by R-loops in vitro
    • Tous, C. and Aguilera, A. (2007) Impairment of transcription elongation by R-loops in vitro. Biochem. Biophys. Res. Commun. 360, 428-432
    • (2007) Biochem. Biophys. Res. Commun. , vol.360 , pp. 428-432
    • Tous, C.1    Aguilera, A.2
  • 25
    • 23744455164 scopus 로고    scopus 로고
    • Inactivation of the SR protein splicing factor ASF/SF2 results in genomic instability
    • Li, X. and Manley, J.L. (2005) Inactivation of the SR protein splicing factor ASF/SF2 results in genomic instability. Cell 122, 365-378
    • (2005) Cell , vol.122 , pp. 365-378
    • Li, X.1    Manley, J.L.2
  • 26
    • 84859087611 scopus 로고    scopus 로고
    • R-loop formation is a distinctive characteristic of unmethylated human CpG island promoters
    • Ginno, P.A., Lott, P.L., Christensen, H.C., Korf, I. and Chedin, F. (2012) R-loop formation is a distinctive characteristic of unmethylated human CpG island promoters. Mol. Cell 45, 814-825
    • (2012) Mol. Cell , vol.45 , pp. 814-825
    • Ginno, P.A.1    Lott, P.L.2    Christensen, H.C.3    Korf, I.4    Chedin, F.5
  • 27
    • 79959345878 scopus 로고    scopus 로고
    • Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination
    • Skourti-Stathaki, K., Proudfoot, N.J. and Gromak, N. (2011) Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination. Mol Cell. 42, 794-805
    • (2011) Mol Cell. , vol.42 , pp. 794-805
    • Skourti-Stathaki, K.1    Proudfoot, N.J.2    Gromak, N.3
  • 28
    • 34548775695 scopus 로고    scopus 로고
    • A persistent RNA DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro
    • Grabczyk, E., Mancuso, M. and Sammarco, M.C. (2007) A persistent RNA DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro. Nucleic Acids Res. 35, 5351-5359
    • (2007) Nucleic Acids Res. , vol.35 , pp. 5351-5359
    • Grabczyk, E.1    Mancuso, M.2    Sammarco, M.C.3
  • 31
    • 84901626668 scopus 로고    scopus 로고
    • R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome
    • Groh, M., Lufino, M., Wade-Martins, R. and Gromak, N. (2014) R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. PLoS Genet. 10, e1004318
    • (2014) PLoS Genet. , vol.10
    • Groh, M.1    Lufino, M.2    Wade-Martins, R.3    Gromak, N.4
  • 33
    • 84857237196 scopus 로고    scopus 로고
    • DNA-RNA hybrid formation mediates RNAi-directed heterochromatin formation
    • Nakama, M., Kawakami, K., Kajitani, T., Urano, T. and Murakami, Y. (2012) DNA-RNA hybrid formation mediates RNAi-directed heterochromatin formation. Genes Cells 17, 218-233
    • (2012) Genes Cells , vol.17 , pp. 218-233
    • Nakama, M.1    Kawakami, K.2    Kajitani, T.3    Urano, T.4    Murakami, Y.5
  • 34
    • 84862147242 scopus 로고    scopus 로고
    • RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity
    • Echeverria, G.V. and Cooper, T.A. (2012) RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res. 1462, 100-111
    • (2012) Brain Res. , vol.1462 , pp. 100-111
    • Echeverria, G.V.1    Cooper, T.A.2
  • 38
    • 46149111652 scopus 로고    scopus 로고
    • Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing
    • Baralle, M., Pastor, T., Bussani, E. and Pagani, F. (2008) Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. Am. J. Hum. Genet. 83, 77-88
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 77-88
    • Baralle, M.1    Pastor, T.2    Bussani, E.3    Pagani, F.4
  • 40
    • 84887995915 scopus 로고    scopus 로고
    • Gene regulation by antisense transcription
    • Pelechano, V. and Steinmetz, L.M. (2013) Gene regulation by antisense transcription. Nat. Rev. Genet. 14, 880-893
    • (2013) Nat. Rev. Genet. , vol.14 , pp. 880-893
    • Pelechano, V.1    Steinmetz, L.M.2
  • 41
    • 80051695536 scopus 로고    scopus 로고
    • A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression
    • Chung, D.W., Rudnicki, D.D., Yu, L. and Margolis, R.L. (2011) A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum. Mol. Genet. 20, 3467-3477
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3467-3477
    • Chung, D.W.1    Rudnicki, D.D.2    Yu, L.3    Margolis, R.L.4
  • 43
  • 44
    • 79955660764 scopus 로고    scopus 로고
    • An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice
    • Wilburn, B., Rudnicki, D.D., Zhao, J., Weitz, T.M., Cheng, Y., Gu, X., Greiner, E., Park, C.S., Wang, N., Sopher, B.L. et al. (2011) An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron 70, 427-440
    • (2011) Neuron , vol.70 , pp. 427-440
    • Wilburn, B.1    Rudnicki, D.D.2    Zhao, J.3    Weitz, T.M.4    Cheng, Y.5    Gu, X.6    Greiner, E.7    Park, C.S.8    Wang, N.9    Sopher, B.L.10
  • 45
    • 27644525713 scopus 로고    scopus 로고
    • Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
    • Cho, D.H., Thienes, C.P., Mahoney, S.E., Analau, E., Filippova, G.N. and Tapscott, S.J. (2005) Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol. Cell 20, 483-489
    • (2005) Mol. Cell , vol.20 , pp. 483-489
    • Cho, D.H.1    Thienes, C.P.2    Mahoney, S.E.3    Analau, E.4    Filippova, G.N.5    Tapscott, S.J.6
  • 47
    • 0344442391 scopus 로고    scopus 로고
    • The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer
    • Handa, V., Saha, T. and Usdin, K. (2003) The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res. 31, 6243-6248
    • (2003) Nucleic Acids Res. , vol.31 , pp. 6243-6248
    • Handa, V.1    Saha, T.2    Usdin, K.3
  • 48
    • 33847077134 scopus 로고    scopus 로고
    • Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets
    • Krol, J., Fiszer, A., Mykowska, A., Sobczak, K., de Mezer, M. and Krzyzosiak, W.J. (2007) Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol. Cell 25, 575-586
    • (2007) Mol. Cell , vol.25 , pp. 575-586
    • Krol, J.1    Fiszer, A.2    Mykowska, A.3    Sobczak, K.4    De Mezer, M.5    Krzyzosiak, W.J.6
  • 50
    • 79953762028 scopus 로고    scopus 로고
    • Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy
    • Yu, Z., Teng, X. and Bonini, N.M. (2011) Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. PLoS Genet. 7, e1001340
    • (2011) PLoS Genet. , vol.7
    • Yu, Z.1    Teng, X.2    Bonini, N.M.3
  • 51
    • 78651099242 scopus 로고    scopus 로고
    • Bidirectional transcription stimulates expansion and contraction of expanded (CTG) (CAG) repeats
    • Nakamori, M., Pearson, C.E. and Thornton, C.A. (2011) Bidirectional transcription stimulates expansion and contraction of expanded (CTG) (CAG) repeats. Hum. Mol. Genet. 20, 580-588
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 580-588
    • Nakamori, M.1    Pearson, C.E.2    Thornton, C.A.3
  • 53
    • 79955919529 scopus 로고    scopus 로고
    • Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism
    • Loesch, D.Z., Godler, D.E., Evans, A., Bui, Q.M., Gehling, F., Kotschet, K.E., Trost, N., Storey, E., Stimpson, P., Kinsella, G. et al. (2011) Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genet. Med. 13, 392-399
    • (2011) Genet. Med. , vol.13 , pp. 392-399
    • Loesch, D.Z.1    Godler, D.E.2    Evans, A.3    Bui, Q.M.4    Gehling, F.5    Kotschet, K.E.6    Trost, N.7    Storey, E.8    Stimpson, P.9    Kinsella, G.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.