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Volumn 120, Issue 5, 2007, Pages 633-640

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

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GUANINE; THYMIDINE;

EID: 33845652267     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0249-3     Document Type: Article
Times cited : (60)

References (48)
  • 2
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edstrom L (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 2:1397-1400
    • (1993) Hum Mol Genet , vol.2 , pp. 1397-1400
    • Anvret, M.1    Ahlberg, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5    Edstrom, L.6
  • 3
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeat in myotonic dystrophy
    • Ashizawa T, Dubel JR, Harati Y (1993) Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43:2674-2678
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 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 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
  • 7
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion J-P, Hudson T, et al (1992) Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799-808
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.P.8    Thirion, J.-P.9    Hudson, T.10
  • 11
    • 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, Groenen PJ, Wieringa B (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 Den Broek, W.J.1    Nelen, M.R.2    Wansink, D.G.3    Coerwinkel, M.M.4    te Riele, H.5    Groenen, P.J.6    Wieringa, B.7
  • 14
    • 0034639711 scopus 로고    scopus 로고
    • Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
    • Fortune MT, Vassilopoulos C, Coolbaugh MI, Siciliano MJ, Monckton DG (2000) Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum Mol Genet 9:439-445
    • (2000) Hum Mol Genet , vol.9 , pp. 439-445
    • Fortune, M.T.1    Vassilopoulos, C.2    Coolbaugh, M.I.3    Siciliano, M.J.4    Monckton, D.G.5
  • 17
    • 0035311021 scopus 로고    scopus 로고
    • Mouse tissue culture models of unstable triplet repeats: In vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates
    • Gomes-Pereira M, Fortune MT, Monckton DG (2001) Mouse tissue culture models of unstable triplet repeats: In vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. Hum Mol Genet 10:845-854
    • (2001) Hum Mol Genet , vol.10 , pp. 845-854
    • Gomes-Pereira, M.1    Fortune, M.T.2    Monckton, D.G.3
  • 18
    • 4544376726 scopus 로고    scopus 로고
    • Analysis of unstable triplet repeats using small-pool polymerase chain reaction
    • Gomes-Pereira M, Bidichandani SI, Monckton DG (2004a) Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods Mol Biol 277:61-76
    • (2004) Methods Mol Biol , vol.277 , pp. 61-76
    • Gomes-Pereira, M.1    Bidichandani, S.I.2    Monckton, D.G.3
  • 19
    • 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 (2004b). 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
  • 20
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features
    • Harding AE (1981) Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features. Brain 104:589-620
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 21
    • 0030058208 scopus 로고    scopus 로고
    • Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
    • Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A (1996). Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 13:196-202
    • Nat Genet , vol.13 , pp. 196-202
    • Ikeda, H.1    Yamaguchi, M.2    Sugai, S.3    Aze, Y.4    Narumiya, S.5    Kakizuka, A.6
  • 23
    • 0034641887 scopus 로고    scopus 로고
    • Dramatic mutation instability in HD mouse striatum: Does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
    • Kennedy L, Shelbourne PF (2000) Dramatic mutation instability in HD mouse striatum: Does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum Mol Genet 9:2539-2544
    • (2000) Hum Mol Genet , vol.9 , pp. 2539-2544
    • Kennedy, L.1    Shelbourne, P.F.2
  • 24
    • 0346752132 scopus 로고    scopus 로고
    • Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
    • Kennedy L, Evans E, Chen CM, Craven L, Detloff PJ, Ennis M, Shelbourne PF (2003) Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum Mol Genet 12:3359-3367
    • (2003) Hum Mol Genet , vol.12 , pp. 3359-3367
    • Kennedy, L.1    Evans, E.2    Chen, C.M.3    Craven, L.4    Detloff, P.J.5    Ennis, M.6    Shelbourne, P.F.7
  • 25
    • 0031827446 scopus 로고    scopus 로고
    • Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
    • Lia AS, Seznec H, Hofmann Radvanyi H, Radvanyi F, Duros C, Saquet C, Blanche M, Junien C, Gourdon G (1998) Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. Hum Mol Genet 7:1285-1291
    • (1998) Hum Mol Genet , vol.7 , pp. 1285-1291
    • Lia, A.S.1    Seznec, H.2    Hofmann Radvanyi, H.3    Radvanyi, F.4    Duros, C.5    Saquet, C.6    Blanche, M.7    Junien, C.8    Gourdon, G.9
  • 26
    • 0034701278 scopus 로고    scopus 로고
    • Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
    • Lorenzetti D, Watase K, Xu B, Matzuk MM, Orr HT, Zoghbi HY (2000) Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet 9:779-785
    • (2000) Hum Mol Genet , vol.9 , pp. 779-785
    • Lorenzetti, D.1    Watase, K.2    Xu, B.3    Matzuk, M.M.4    Orr, H.T.5    Zoghbi, H.Y.6
  • 28
    • 0031056685 scopus 로고    scopus 로고
    • Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
    • Mangiarini L, Sathasivam K, Mahal A, Mott R, Seller M, Bates GP (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat Genet 15:197-200
    • (1997) Nat Genet , vol.15 , pp. 197-200
    • Mangiarini, L.1    Sathasivam, K.2    Mahal, A.3    Mott, R.4    Seller, M.5    Bates, G.P.6
  • 29
    • 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
  • 32
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton DG, Wong LJ, Ashizawa T, Caskey CT (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses. Hum Mol Genet 4:1-8
    • (1995) Hum Mol Genet , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.J.2    Ashizawa, T.3    Caskey, C.T.4
  • 36
    • 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
  • 37
    • 0000256612 scopus 로고    scopus 로고
    • Clinical and pathological aspects of Freidreich ataxia
    • In: Wells R, Warren S, Sarmiento M (eds) Academic, New York
    • Pandolfo M, Koenig M (1998) Clinical and pathological aspects of Freidreich ataxia. In: Wells R, Warren S, Sarmiento M (eds) Genetic instabilities and hereditary neurological diseases, Academic, New York, pp 373-398
    • (1998) Genetic Instabilities and Hereditary Neurological Diseases , pp. 373-398
    • Pandolfo, M.1    Koenig, M.2
  • 41
    • 0034194141 scopus 로고    scopus 로고
    • Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
    • Seznec H, Lia-Baldini AS, Duros C, Fouquet C, Lacroix C, Hofmann-Radvanyi H, Junien C, Gourdon G (2000) Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum Mol Genet 9:1185-1194
    • (2000) Hum Mol Genet , vol.9 , pp. 1185-1194
    • Seznec, H.1    Lia-Baldini, A.S.2    Duros, C.3    Fouquet, C.4    Lacroix, C.5    Hofmann-Radvanyi, H.6    Junien, C.7    Gourdon, G.8
  • 42
    • 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, Gómez M, Clark RM, Murray C, Ashizawa T, Bidichandani SI (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    Gómez, M.3    Clark, R.M.4    Murray, C.5    Ashizawa, T.6    Bidichandani, S.I.7
  • 44
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group
    • The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 45
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thornton CA, Johnson KJ, Moxley RT (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 35:104-107
    • (1994) Ann Neurol , vol.35 , pp. 104-107
    • Thornton, C.A.1    Johnson, K.J.2    Moxley, R.T.3
  • 46
    • 0242524440 scopus 로고    scopus 로고
    • Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1
    • Watase K, Venken KJ, Sun Y, Orr HT, Zoghbi HY (2003) Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum Mol Genet 12:2789-2795
    • (2003) Hum Mol Genet , vol.12 , pp. 2789-2795
    • Watase, K.1    Venken, K.J.2    Sun, Y.3    Orr, H.T.4    Zoghbi, H.Y.5
  • 48
    • 0028890669 scopus 로고
    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong LJ, Ashizawa T, Monckton DG, Caskey CT, Richards CS (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56:114-122
    • (1995) Am J Hum Genet , vol.56 , pp. 114-122
    • Wong, L.J.1    Ashizawa, T.2    Monckton, D.G.3    Caskey, C.T.4    Richards, C.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.