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Volumn 5, Issue 10, 2009, Pages

Progressive GAA·TTC repeat expansion in human cell lines

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 73449084162     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000704     Document Type: Article
Times cited : (54)

References (62)
  • 1
    • 0033942440 scopus 로고    scopus 로고
    • DNA repeat expansions and human disease
    • Usdin K, Grabczyk E (2000) DNA repeat expansions and human disease. Cell Mol Life Sci 57: 914-931.
    • (2000) Cell Mol Life Sci , vol.57 , pp. 914-931
    • Usdin, K.1    Grabczyk, E.2
  • 2
    • 25844487226 scopus 로고    scopus 로고
    • Diseases of unstable repeat expansion: Mechanisms and common principles
    • Gatchel JR, Zoghbi HY (2005) Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 6: 743-755.
    • (2005) Nat Rev Genet , vol.6 , pp. 743-755
    • Gatchel, J.R.1    Zoghbi, H.Y.2
  • 4
    • 34250878426 scopus 로고    scopus 로고
    • Expandable DNA repeats and human disease
    • Mirkin SM (2007) Expandable DNA repeats and human disease. Nature 447: 932-940.
    • (2007) Nature , vol.447 , pp. 932-940
    • Mirkin, S.M.1
  • 5
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • Orr HT, Zoghbi HY (2007) Trinucleotide repeat disorders. Annu Rev Neurosci 30: 575-621.
    • (2007) Annu Rev Neurosci , vol.30 , pp. 575-621
    • Orr, H.T.1    Zoghbi, H.Y.2
  • 6
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3    Pianese, L.4    Cossee, M.5
  • 7
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, et al. (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335: 1169-1175.
    • (1996) N Engl J Med , vol.335 , pp. 1169-1175
    • Durr, A.1    Cossee, M.2    Agid, Y.3    Campuzano, V.4    Mignard, C.5
  • 8
    • 8544240144 scopus 로고    scopus 로고
    • The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
    • Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, et al. (1997) The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 6: 1261-1266.
    • (1997) Hum Mol Genet , vol.6 , pp. 1261-1266
    • Montermini, L.1    Andermann, E.2    Labuda, M.3    Richter, A.4    Pandolfo, M.5
  • 9
    • 0030739437 scopus 로고    scopus 로고
    • Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
    • Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, et al. (1997) Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 94: 7452-7457.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 7452-7457
    • Cossee, M.1    Schmitt, M.2    Campuzano, V.3    Reutenauer, L.4    Moutou, C.5
  • 10
    • 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 SI, Ashizawa T, Patel PI (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
  • 11
    • 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 PD, Parniewski P, Ohshima K, Pandolfo M, et al. (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
  • 12
    • 0035920101 scopus 로고    scopus 로고
    • Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription
    • Sakamoto N, Ohshima K, Montermini L, Pandolfo M, Wells RD (2001) Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription. J Biol Chem 276: 27171-27177.
    • (2001) J Biol Chem , vol.276 , pp. 27171-27177
    • Sakamoto, N.1    Ohshima, K.2    Montermini, L.3    Pandolfo, M.4    Wells, R.D.5
  • 13
    • 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, 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
  • 14
    • 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, Sammarco MC (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
  • 15
    • 0037464584 scopus 로고    scopus 로고
    • DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
    • Saveliev A, Everett C, Sharpe T, Webster Z, Festenstein R (2003) DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 422: 909-913.
    • (2003) Nature , vol.422 , pp. 909-913
    • Saveliev, A.1    Everett, C.2    Sharpe, T.3    Webster, Z.4    Festenstein, R.5
  • 16
    • 33748778745 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
    • Herman D, Jenssen K, Burnett R, Soragni E, Perlman SL, et al. (2006) Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol 2: 551-558.
    • (2006) Nat Chem Biol , vol.2 , pp. 551-558
    • Herman, D.1    Jenssen, K.2    Burnett, R.3    Soragni, E.4    Perlman, S.L.5
  • 17
    • 0029757676 scopus 로고    scopus 로고
    • The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
    • Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, et al. (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59: 554-560.
    • (1996) Am J Hum Genet , vol.59 , pp. 554-560
    • Filla, A.1    De Michele, G.2    Cavalcanti, F.3    Pianese, L.4    Monticelli, A.5
  • 18
    • 17144467700 scopus 로고    scopus 로고
    • Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
    • Montermini L, Richter A, Morgan K, Justice CM, Julien D, et al. (1997) Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 41: 675-682.
    • (1997) Ann Neurol , vol.41 , pp. 675-682
    • Montermini, L.1    Richter, A.2    Morgan, K.3    Justice, C.M.4    Julien, D.5
  • 20
    • 0030862745 scopus 로고    scopus 로고
    • Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
    • Monros E, Molto MD, Martinez F, Canizares J, Blanca J, et al. (1997) Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 61: 101-110.
    • (1997) Am J Hum Genet , vol.61 , pp. 101-110
    • Monros, E.1    Molto, M.D.2    Martinez, F.3    Canizares, J.4    Blanca, J.5
  • 21
    • 0031816520 scopus 로고    scopus 로고
    • Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene
    • Delatycki MB, Paris D, Gardner RJ, Forshaw K, Nicholson GA, et al. (1998) Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J Med Genet 35: 713-716.
    • (1998) J Med Genet , vol.35 , pp. 713-716
    • Delatycki, M.B.1    Paris, D.2    Gardner, R.J.3    Forshaw, K.4    Nicholson, G.A.5
  • 22
    • 0031739916 scopus 로고    scopus 로고
    • Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the 625 gene: Pedigree studies and analysis of sperm from patients with Friedreich's ataxia
    • De Michele G, Cavalcanti F, Criscuolo C, Pianese L, Monticelli A, et al. (1998) Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the 625 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. Hum Mol Genet 7: 1901-1906.
    • (1998) Hum Mol Genet , vol.7 , pp. 1901-1906
    • De Michele, G.1    Cavalcanti, F.2    Criscuolo, C.3    Pianese, L.4    Monticelli, A.5
  • 23
    • 0036713922 scopus 로고    scopus 로고
    • The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions
    • Sharma R, Bhatti S, Gomez M, Clark RM, Murray C, et al. (2002) The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet 11: 2175-2187.
    • (2002) Hum Mol Genet , vol.11 , pp. 2175-2187
    • Sharma, R.1    Bhatti, S.2    Gomez, M.3    Clark, R.M.4    Murray, C.5
  • 24
    • 10244264815 scopus 로고    scopus 로고
    • Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia
    • Pollard LM, Sharma R, Gomez M, Shah S, Delatycki MB, et al. (2004) Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res 32: 5962-5971.
    • (2004) Nucleic Acids Res , vol.32 , pp. 5962-5971
    • Pollard, L.M.1    Sharma, R.2    Gomez, M.3    Shah, S.4    Delatycki, M.B.5
  • 25
    • 9644303359 scopus 로고    scopus 로고
    • Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles
    • Sharma R, De Biase I, Gomez M, Delatycki MB, Ashizawa T, et al. (2004) Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol 56: 898-901.
    • (2004) Ann Neurol , vol.56 , pp. 898-901
    • Sharma, R.1    De Biase, I.2    Gomez, M.3    Delatycki, M.B.4    Ashizawa, T.5
  • 26
    • 34249988198 scopus 로고    scopus 로고
    • Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life
    • De Biase I, Rasmussen A, Monticelli A, Al-Mahdawi S, Pook M, et al. (2007) Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics 90: 1-5.
    • (2007) Genomics , vol.90 , pp. 1-5
    • De Biase, I.1    Rasmussen, A.2    Monticelli, A.3    Al-Mahdawi, S.4    Pook, M.5
  • 27
    • 33846815260 scopus 로고    scopus 로고
    • Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients
    • De Biase I, Rasmussen A, Endres D, Al-Mahdawi S, Monticelli A, et al. (2007) Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol 61: 55-60.
    • (2007) Ann Neurol , vol.61 , pp. 55-60
    • De Biase, I.1    Rasmussen, A.2    Endres, D.3    Al-Mahdawi, S.4    Monticelli, A.5
  • 28
    • 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 RD, 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
  • 29
    • 0033525081 scopus 로고    scopus 로고
    • Expansion and deletion of triplet repeat sequences in Escherichia coli occur on the leading strand of DNA replication
    • Iyer RR, Wells RD (1999) Expansion and deletion of triplet repeat sequences in Escherichia coli occur on the leading strand of DNA replication. J Biol Chem 274: 3865-3877.
    • (1999) J Biol Chem , vol.274 , pp. 3865-3877
    • Iyer, R.R.1    Wells, R.D.2
  • 30
    • 1542344344 scopus 로고    scopus 로고
    • Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo
    • Krasilnikova MM, Mirkin SM (2004) Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo. Mol Cell Biol 24: 2286-2295.
    • (2004) Mol Cell Biol , vol.24 , pp. 2286-2295
    • Krasilnikova, M.M.1    Mirkin, S.M.2
  • 31
    • 0023796273 scopus 로고
    • The chemistry and biology of unusual DNA structures adopted by oligopurine. oligopyrimidine sequences
    • Wells RD, Collier DA, Hanvey JC, Shimizu M, Wohlrab F (1988) The chemistry and biology of unusual DNA structures adopted by oligopurine. oligopyrimidine sequences. Faseb J 2: 2939-2949.
    • (1988) Faseb J , vol.2 , pp. 2939-2949
    • Wells, R.D.1    Collier, D.A.2    Hanvey, J.C.3    Shimizu, M.4    Wohlrab, F.5
  • 33
    • 67649639511 scopus 로고    scopus 로고
    • Large-scale expansions of Friedreich's ataxia GAA repeats in yeast
    • Shishkin AA, Voineagu I, Matera R, Cherng N, Chernet BT, et al. (2009) Large-scale expansions of Friedreich's ataxia GAA repeats in yeast. Mol Cell 35: 82-92.
    • (2009) Mol Cell , vol.35 , pp. 82-92
    • Shishkin, A.A.1    Voineagu, I.2    Matera, R.3    Cherng, N.4    Chernet, B.T.5
  • 34
    • 0032739342 scopus 로고    scopus 로고
    • Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence
    • Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, et al. (1999) Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Hum Mol Genet 8: 2425-2436.
    • (1999) Hum Mol Genet , vol.8 , pp. 2425-2436
    • Bidichandani, S.I.1    Purandare, S.M.2    Taylor, E.E.3    Gumin, G.4    Machkhas, H.5
  • 35
    • 3042654716 scopus 로고    scopus 로고
    • GAA repeat instability in Friedreich ataxia YAC transgenic mice
    • Al-Mahdawi S, Pinto RM, Ruddle P, Carroll C, Webster Z, et al. (2004) GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics 84: 301-310.
    • (2004) Genomics , vol.84 , pp. 301-310
    • Al-Mahdawi, S.1    Pinto, R.M.2    Ruddle, P.3    Carroll, C.4    Webster, Z.5
  • 36
    • 33845652267 scopus 로고    scopus 로고
    • The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
    • Clark RM, De Biase I, Malykhina AP, Al-Mahdawi S, Pook M, et al. (2007) The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum Genet 120: 633-640.
    • (2007) Hum Genet , vol.120 , pp. 633-640
    • Clark, R.M.1    De Biase, I.2    Malykhina, A.P.3    Al-Mahdawi, S.4    Pook, M.5
  • 38
    • 0033080760 scopus 로고    scopus 로고
    • Generation of microgram quantities of trinucleotide repeat tracts of defined length, interspersion pattern, and orientation
    • Grabczyk E, Usdin K (1999) Generation of microgram quantities of trinucleotide repeat tracts of defined length, interspersion pattern, and orientation. Anal Biochem 267: 241-243.
    • (1999) Anal Biochem , vol.267 , pp. 241-243
    • Grabczyk, E.1    Usdin, K.2
  • 39
    • 33845632499 scopus 로고    scopus 로고
    • Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats
    • Rindler MP, Clark RM, Pollard LM, De Biase I, Bidichandani SI (2006) Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats. Nucleic Acids Res 34: 6352-6361.
    • (2006) Nucleic Acids Res , vol.34 , pp. 6352-6361
    • Rindler, M.P.1    Clark, R.M.2    Pollard, L.M.3    De Biase, I.4    Bidichandani, S.I.5
  • 40
    • 36849047935 scopus 로고    scopus 로고
    • Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template
    • Pollard LM, Chutake YK, Rindler PM, Bidichandani SI (2007) Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template. Nucleic Acids Res 35: 6884-6894.
    • (2007) Nucleic Acids Res , vol.35 , pp. 6884-6894
    • Pollard, L.M.1    Chutake, Y.K.2    Rindler, P.M.3    Bidichandani, S.I.4
  • 41
    • 55549095970 scopus 로고    scopus 로고
    • Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair
    • Kim HM, Narayanan V, Mieczkowski PA, Petes TD, Krasilnikova MM, et al. (2008) Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair. Embo J 27: 2896-2906.
    • (2008) Embo J , vol.27 , pp. 2896-2906
    • Kim, H.M.1    Narayanan, V.2    Mieczkowski, P.A.3    Petes, T.D.4    Krasilnikova, M.M.5
  • 42
    • 58549099457 scopus 로고    scopus 로고
    • Bourn RL, Rindler PM, Pollard LM, Bidichandani SI (2009) E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence. Mutat Res 661: 71-77.
    • Bourn RL, Rindler PM, Pollard LM, Bidichandani SI (2009) E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence. Mutat Res 661: 71-77.
  • 43
    • 32244438870 scopus 로고    scopus 로고
    • Transcription promotes contraction of CAG repeat tracts in human cells
    • Lin Y, Dion V, Wilson JH (2006) Transcription promotes contraction of CAG repeat tracts in human cells. Nat Struct Mol Biol 13: 179-180.
    • (2006) Nat Struct Mol Biol , vol.13 , pp. 179-180
    • Lin, Y.1    Dion, V.2    Wilson, J.H.3
  • 44
    • 34548204316 scopus 로고    scopus 로고
    • Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair
    • Lin Y, Wilson JH (2007) Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair. Mol Cell Biol 27: 6209-6217.
    • (2007) Mol Cell Biol , vol.27 , pp. 6209-6217
    • Lin, Y.1    Wilson, J.H.2
  • 45
    • 56049103058 scopus 로고    scopus 로고
    • Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia
    • Soragni E, Herman D, Dent SY, Gottesfeld JM, Wells RD, et al. (2008) Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res 36: 6056-6065.
    • (2008) Nucleic Acids Res , vol.36 , pp. 6056-6065
    • Soragni, E.1    Herman, D.2    Dent, S.Y.3    Gottesfeld, J.M.4    Wells, R.D.5
  • 46
    • 0035369625 scopus 로고    scopus 로고
    • Multiple transcript cleavage precedes polymerase release in termination by RNA polymerase II
    • Dye MJ, Proudfoot NJ (2001) Multiple transcript cleavage precedes polymerase release in termination by RNA polymerase II. Cell 105: 669-681.
    • (2001) Cell , vol.105 , pp. 669-681
    • Dye, M.J.1    Proudfoot, N.J.2
  • 47
    • 40649095272 scopus 로고    scopus 로고
    • Molecular dissection of mammalian RNA polymerase II transcriptional termination
    • West S, Proudfoot NJ, Dye MJ (2008) Molecular dissection of mammalian RNA polymerase II transcriptional termination. Mol Cell 29: 600-610.
    • (2008) Mol Cell , vol.29 , pp. 600-610
    • West, S.1    Proudfoot, N.J.2    Dye, M.J.3
  • 48
    • 9644308046 scopus 로고    scopus 로고
    • Human 5′→3′ exonuclease Xrn2 promotes transcription termination at co-transcriptional cleavage sites
    • West S, Gromak N, Proudfoot NJ (2004) Human 5′→3′ exonuclease Xrn2 promotes transcription termination at co-transcriptional cleavage sites. Nature 432: 522-525.
    • (2004) Nature , vol.432 , pp. 522-525
    • West, S.1    Gromak, N.2    Proudfoot, N.J.3
  • 49
    • 25844524498 scopus 로고    scopus 로고
    • Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair
    • Panigrahi GB, Lau R, Montgomery SE, Leonard MR, Pearson CE (2005) Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair. Nat Struct Mol Biol 12: 654-662.
    • (2005) Nat Struct Mol Biol , vol.12 , pp. 654-662
    • Panigrahi, G.B.1    Lau, R.2    Montgomery, S.E.3    Leonard, M.R.4    Pearson, C.E.5
  • 50
    • 0032708840 scopus 로고    scopus 로고
    • Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
    • Manley K, Shirley TL, Flaherty L, Messer A (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet 23: 471-473.
    • (1999) Nat Genet , vol.23 , pp. 471-473
    • Manley, K.1    Shirley, T.L.2    Flaherty, L.3    Messer, A.4
  • 51
    • 0037081784 scopus 로고    scopus 로고
    • Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
    • van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, et al. (2002) Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet 11: 191-198.
    • (2002) Hum Mol Genet , vol.11 , pp. 191-198
    • van den1    Broek, W.J.2    Nelen, M.R.3    Wansink, D.G.4    Coerwinkel, M.M.5    te Riele, H.6
  • 52
    • 0035065524 scopus 로고    scopus 로고
    • Trinucleotide expansion in haploid germ cells by gap repair
    • Kovtun IV, McMurray CT (2001) Trinucleotide expansion in haploid germ cells by gap repair. Nat Genet 27: 407-411.
    • (2001) Nat Genet , vol.27 , pp. 407-411
    • Kovtun, I.V.1    McMurray, C.T.2
  • 53
    • 0037543991 scopus 로고    scopus 로고
    • CTG repeat instability and size variation timing in DNA repair-deficient mice
    • Savouret C, Brisson E, Essers J, Kanaar R, Pastink A, et al. (2003) CTG repeat instability and size variation timing in DNA repair-deficient mice. Embo J 22: 2264-2273.
    • (2003) Embo J , vol.22 , pp. 2264-2273
    • Savouret, C.1    Brisson, E.2    Essers, J.3    Kanaar, R.4    Pastink, A.5
  • 54
    • 4444323468 scopus 로고    scopus 로고
    • Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: Implications for the mechanism of triplet repeat expansion
    • Gomes-Pereira M, Fortune MT, Ingram L, McAbney JP, Monckton DG (2004) Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum Mol Genet 13: 1815-1825.
    • (2004) Hum Mol Genet , vol.13 , pp. 1815-1825
    • Gomes-Pereira, M.1    Fortune, M.T.2    Ingram, L.3    McAbney, J.P.4    Monckton, D.G.5
  • 55
    • 33646168124 scopus 로고    scopus 로고
    • Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice
    • Foiry L, Dong L, Savouret C, Hubert L, te Riele H, et al. (2006) Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet 119: 520-526.
    • (2006) Hum Genet , vol.119 , pp. 520-526
    • Foiry, L.1    Dong, L.2    Savouret, C.3    Hubert, L.4    te Riele, H.5
  • 56
    • 34249337762 scopus 로고    scopus 로고
    • OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells
    • Kovtun IV, Liu Y, Bjoras M, Klungland A, Wilson SH, et al. (2007) OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 447: 447-452.
    • (2007) Nature , vol.447 , pp. 447-452
    • Kovtun, I.V.1    Liu, Y.2    Bjoras, M.3    Klungland, A.4    Wilson, S.H.5
  • 57
    • 20144366765 scopus 로고    scopus 로고
    • Human XPC-hHR23B interacts with XPA-RPA in the recognition of triplex-directed psoralen DNA interstrand crosslinks
    • Thoma BS, Wakasugi M, Christensen J, Reddy MC, Vasquez KM (2005) Human XPC-hHR23B interacts with XPA-RPA in the recognition of triplex-directed psoralen DNA interstrand crosslinks. Nucleic Acids Res 33: 2993-3001.
    • (2005) Nucleic Acids Res , vol.33 , pp. 2993-3001
    • Thoma, B.S.1    Wakasugi, M.2    Christensen, J.3    Reddy, M.C.4    Vasquez, K.M.5
  • 58
    • 0037197844 scopus 로고    scopus 로고
    • Human XPA and RPA DNA repair proteins participate in specific recognition of triplexinduced helical distortions
    • Vasquez KM, Christensen J, Li L, Finch RA, Glazer PM (2002) Human XPA and RPA DNA repair proteins participate in specific recognition of triplexinduced helical distortions. Proc Natl Acad Sci U S A 99: 5848-5853.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 5848-5853
    • Vasquez, K.M.1    Christensen, J.2    Li, L.3    Finch, R.A.4    Glazer, P.M.5
  • 59
    • 0030059301 scopus 로고    scopus 로고
    • Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair
    • Wang G, Seidman MM, Glazer PM (1996) Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair. Science 271: 802-805.
    • (1996) Science , vol.271 , pp. 802-805
    • Wang, G.1    Seidman, M.M.2    Glazer, P.M.3
  • 60
    • 67650828240 scopus 로고    scopus 로고
    • Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks
    • Zhao J, Jain A, Iyer RR, Modrich PL, Vasquez KM (2009) Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks. Nucleic Acids Res 37: 4420-4429.
    • (2009) Nucleic Acids Res , vol.37 , pp. 4420-4429
    • Zhao, J.1    Jain, A.2    Iyer, R.R.3    Modrich, P.L.4    Vasquez, K.M.5
  • 61
    • 0030752987 scopus 로고    scopus 로고
    • Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
    • Pearson CE, Ewel A, Acharya S, Fishel RA, Sinden RR (1997) Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum Mol Genet 6: 1117-1123.
    • (1997) Hum Mol Genet , vol.6 , pp. 1117-1123
    • Pearson, C.E.1    Ewel, A.2    Acharya, S.3    Fishel, R.A.4    Sinden, R.R.5
  • 62
    • 39149142230 scopus 로고    scopus 로고
    • Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence
    • Pollard LM, Bourn RL, Bidichandani SI (2008) Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence. Nucleic Acids Res 36: 489-500.
    • (2008) Nucleic Acids Res , vol.36 , pp. 489-500
    • Pollard, L.M.1    Bourn, R.L.2    Bidichandani, S.I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.