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Volumn 32, Issue 19, 2004, Pages 5962-5971

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; CYTOSINE; GUANINE; OKAZAKI FRAGMENT; THREONINE;

EID: 10244264815     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/gkh933     Document Type: Article
Times cited : (51)

References (53)
  • 5
    • 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
  • 6
    • 0032486276 scopus 로고    scopus 로고
    • Inhibitory effects of expanded GAA•TTC triplet repeats from intron 1 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 1 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
  • 7
    • 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
  • 9
    • 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. and Wells,R.D. (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
  • 10
    • 0031739916 scopus 로고    scopus 로고
    • Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: Pedigree studies and analysis of sperm from patients with Friedreich's ataxia
    • De Michele,G., Cavalcanti,F., Criscuolo,C., Pianese,L., Monticelli,A., Filla,A and Cocozza,S. (1998) Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 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    Filla, A.6    Cocozza, S.7
  • 14
    • 0036713922 scopus 로고    scopus 로고
    • The GAA triplet-repeat shows a high level of somatic instability in vivo, with a significant predilection for large contractions
    • Sharma,R.. Bhatti,S., Gómez,M., Clark,R.M., Murray,C., Ashizawa,T. and Bidichandani,S.I. (2002) The GAA triplet-repeat 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
  • 15
    • 0034640011 scopus 로고    scopus 로고
    • Fourteen and counting: Unraveling trinucleotide repeat diseases
    • Cummings,C.J. and Zoghbi,H.Y. (2000) Fourteen and counting: unraveling trinucleotide repeat diseases. Hum. Mol. Genet. 9, 909-916.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 909-916
    • Cummings, C.J.1    Zoghbi, H.Y.2
  • 16
    • 0035201633 scopus 로고    scopus 로고
    • The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders
    • Bowater,R.P. and Wells,R.D. (2001) The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders. Prog. Nucleic Acid Res. Mol. Biol., 66, 159-202.
    • (2001) Prog. Nucleic Acid Res. Mol. Biol. , vol.66 , pp. 159-202
    • Bowater, R.P.1    Wells, R.D.2
  • 17
    • 0029035379 scopus 로고
    • Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E.coli
    • Kang,S., Jaworski,A., Ohshima,K. and Wells,R.D. (1995) Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E.coli. Nature Genet. 10, 213-218.
    • (1995) Nature Genet. , vol.10 , pp. 213-218
    • Kang, S.1    Jaworski, A.2    Ohshima, K.3    Wells, R.D.4
  • 18
    • 0030725454 scopus 로고    scopus 로고
    • Trinucleotide repeats affect DNA replication in vivo
    • Samadashwily,S.M., Raca,G. and Mirkin,S.M. (1997) Trinucleotide repeats affect DNA replication in vivo. Nature Genet. 17, 298-304.
    • (1997) Nature Genet. , vol.17 , pp. 298-304
    • Samadashwily, S.M.1    Raca, G.2    Mirkin, S.M.3
  • 19
    • 0032514990 scopus 로고    scopus 로고
    • CTG repeats show bimodal amplification in E.coli
    • Sarkar,P.S., Chang,H.C., Boudi,F.B. and Reddy,S. (1998) CTG repeats show bimodal amplification in E.coli. Cell, 95, 531-540.
    • (1998) Cell , vol.95 , pp. 531-540
    • Sarkar, P.S.1    Chang, H.C.2    Boudi, F.B.3    Reddy, S.4
  • 20
    • 0030895078 scopus 로고    scopus 로고
    • Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
    • Freudenreich,C.H., Stavenhagen,J.B. and Zakian,V.A. (1997) Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol. Cell. Biol., 17, 2090-2098.
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 2090-2098
    • Freudenreich, C.H.1    Stavenhagen, J.B.2    Zakian, V.A.3
  • 21
    • 0032514711 scopus 로고    scopus 로고
    • Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae
    • Miret,J.J., Pessoa-Brandão,L. and Lahue,R.S. (1998) Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc. Natl Acad. Sci. USA, 95, 12438-12443.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 12438-12443
    • Miret, J.J.1    Pessoa-Brandão, L.2    Lahue, R.S.3
  • 22
    • 0029958255 scopus 로고    scopus 로고
    • Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae
    • Maurer,D.J., O'Callaghan,B.L. and Livingston,D.M. (1996) Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae. Mol. Cell. Biol., 16, 6617-6622.
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 6617-6622
    • Maurer, D.J.1    O'Callaghan, B.L.2    Livingston, D.M.3
  • 23
    • 0029983269 scopus 로고    scopus 로고
    • Cloning, characterization, and properties of plasmids containing CGG triplet repeats from the FMR1 gene
    • Shimizu,M., Gellibolian,R., Oostra,B.A. and Wells,R.D. (1996) Cloning, characterization, and properties of plasmids containing CGG triplet repeats from the FMR1 gene. J. Mol. Biol., 258, 614-626.
    • (1996) J. Mol. Biol. , vol.258 , pp. 614-626
    • Shimizu, M.1    Gellibolian, R.2    Oostra, B.A.3    Wells, R.D.4
  • 24
    • 0032524466 scopus 로고    scopus 로고
    • Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure
    • Hirst,M.C. and White,P.J. (1998) Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure. Nucleic Acids Res., 26, 2353-2358.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 2353-2358
    • Hirst, M.C.1    White, P.J.2
  • 25
    • 0032771002 scopus 로고    scopus 로고
    • Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism
    • White,P.J., Borts,R.H. and Hirst,M.C. (1999) Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism. Mol. Cell. Biol. 19, 5675-84.
    • (1999) Mol. Cell. Biol. , vol.19 , pp. 5675-5684
    • White, P.J.1    Borts, R.H.2    Hirst, M.C.3
  • 26
    • 0034017208 scopus 로고    scopus 로고
    • CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae
    • Balakumaran,B.S., Freudenreich,C.H. and Zakian,V.A. (2000) CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae. Hum. Mol. Genet., 9, 93-100.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 93-100
    • Balakumaran, B.S.1    Freudenreich, C.H.2    Zakian, V.A.3
  • 27
    • 0037462828 scopus 로고    scopus 로고
    • Hairpin formation in Friedreich's ataxia triplet repeat expansion
    • Heidenfelder,B.L., Makhov,A.M. and Topal,M.D. (2003) Hairpin formation in Friedreich's ataxia triplet repeat expansion. J. Biol. Chem., 278, 2425-2431.
    • (2003) J. Biol. Chem. , vol.278 , pp. 2425-2431
    • Heidenfelder, B.L.1    Makhov, A.M.2    Topal, M.D.3
  • 28
    • 0029053371 scopus 로고
    • Trinucleotide repeats that expand in human disease form hairpin structures in vitro
    • Gacy,A.M., Goellner,G., Juranic,N., Macura,S. and McMurray,C.T. (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
    • (1995) Cell , vol.81 , pp. 533-540
    • Gacy, A.M.1    Goellner, G.2    Juranic, N.3    Macura, S.4    McMurray, C.T.5
  • 30
    • 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
  • 31
    • 0033525103 scopus 로고    scopus 로고
    • The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia
    • Mariappan,S.V.S., Catasti,P., Silks,L.A.,III, Bradbury,E.M. and Gupta,G. (1999) The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia. J. Mol. Biol., 285, 2035-2052.
    • (1999) J. Mol. Biol. , vol.285 , pp. 2035-2052
    • Mariappan, S.V.S.1    Catasti, P.2    Silks III, L.A.3    Bradbury, E.M.4    Gupta, G.5
  • 33
    • 0034672110 scopus 로고    scopus 로고
    • Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats
    • Grabczyk,E. and Usdin,K. (2000) Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats. Nucleic Acids Res., 28, 4930-4937.
    • (2000) Nucleic Acids Res. , vol.28 , pp. 4930-4937
    • Grabczyk, E.1    Usdin, K.2
  • 34
    • 0026772415 scopus 로고
    • Binding properties of replication protein A from human and yeast cells
    • Kim,C., Snyder,R.O. and Wold,M.S. (1992) Binding properties of replication protein A from human and yeast cells. Mol. Cell. Biol. 12, 3050-3059.
    • (1992) Mol. Cell. Biol. , vol.12 , pp. 3050-3059
    • Kim, C.1    Snyder, R.O.2    Wold, M.S.3
  • 36
    • 0034612992 scopus 로고    scopus 로고
    • Unexpected formation of parallel duplex in GAA and TTC trinucleotide repeats of Friedreich's ataxia
    • LeProust,E.M., Pearson,C.E., Sinden,R.R. and Gao,X. (2000) Unexpected formation of parallel duplex in GAA and TTC trinucleotide repeats of Friedreich's ataxia. J. Mol. Biol., 302, 1063-1080.
    • (2000) J. Mol. Biol. , vol.302 , pp. 1063-1080
    • LeProust, E.M.1    Pearson, C.E.2    Sinden, R.R.3    Gao, X.4
  • 38
    • 0025073066 scopus 로고
    • Identification of an origin of bidirectional DNA replication in mammalian chromosomes
    • Burhans,W.C., Vassilev,L.T., Caddle,M.S., Heintz,N.H. and DePamphilis,M.L. (1990) Identification of an origin of bidirectional DNA replication in mammalian chromosomes. Cell, 62, 955-965.
    • (1990) Cell , vol.62 , pp. 955-965
    • Burhans, W.C.1    Vassilev, L.T.2    Caddle, M.S.3    Heintz, N.H.4    DePamphilis, M.L.5
  • 39
    • 0018801577 scopus 로고
    • Metabolism of Okazaki fragments during simian virus 40 DNA replication
    • Anderson,S. and DePamphilis,M.L. (1979) Metabolism of Okazaki fragments during simian virus 40 DNA replication. J. Biol. Chem., 254, 11495-11504.
    • (1979) J. Biol. Chem. , vol.254 , pp. 11495-11504
    • Anderson, S.1    DePamphilis, M.L.2
  • 41
    • 0037157227 scopus 로고    scopus 로고
    • Instability of repeated DNAs during transformation in Escherichia coli
    • Hashem,V.I., Klysik,E.A., Rosche,W.A. and Sinden,R.R. (2002) Instability of repeated DNAs during transformation in Escherichia coli. Mutat. Res., 502, 39-46.
    • (2002) Mutat. Res. , vol.502 , pp. 39-46
    • Hashem, V.I.1    Klysik, E.A.2    Rosche, W.A.3    Sinden, R.R.4
  • 42
    • 4544376726 scopus 로고    scopus 로고
    • Analysis of unstable triplet repeats using small pool polymerase chain reaction
    • Kohwi,Y. (ed.), Humana Press, Totowa, NJ, USA
    • Gomes-Pereira,M., Bidichandani,S.I. and Monckton,D.G. (2004) Analysis of unstable triplet repeats using small pool polymerase chain reaction. In Kohwi,Y. (ed.), Methods in Molecular Biology, Humana Press, Totowa, NJ, USA, Vol. 227, pp. 61-76.
    • (2004) Methods in Molecular Biology , vol.227 , pp. 61-76
    • Gomes-Pereira, M.1    Bidichandani, S.I.2    Monckton, D.G.3
  • 44
    • 0035920106 scopus 로고    scopus 로고
    • GGA•TCC-interrupted triplets in long GAA•TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities
    • Sakamoto,N., Larsson,J.E., Iyer,R.R., Montermini,L., Pandolfo,M. and Wells,R.D. (2001) GGA•TCC-interrupted triplets in long GAA•TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities. J. Biol. Chem., 276, 27178-27187.
    • (2001) J. Biol. Chem. , vol.276 , pp. 27178-27187
    • Sakamoto, N.1    Larsson, J.E.2    Iyer, R.R.3    Montermini, L.4    Pandolfo, M.5    Wells, R.D.6
  • 45
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton,D.G., Wong,L.C., Ashizawa,T. and Caskey,T. (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.C.2    Ashizawa, T.3    Caskey, T.4
  • 46
    • 0030586908 scopus 로고    scopus 로고
    • n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy
    • n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy. Genomics, 36 47-53.
    • (1996) Genomics , vol.36 , pp. 47-53
    • Ashizawa, T.1    Mockton, D.G.2    Vaishnav, S.3    Patel, B.J.4    Voskova, A.5    Caskey, T.6
  • 48
    • 0034639711 scopus 로고    scopus 로고
    • Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
    • Fortune,M.T., Vassilopoulos,C., Coolbaugh,M.I., Siciliano,M.J. and Monckton,D.G. (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
  • 49
    • 0035311021 scopus 로고    scopus 로고
    • Mouse tissue culture models of unstable triplet repeats: In vitro selection for larger alleles, mutational expansion bias and tissue specific, but no association with cell division rates
    • Gomes-Pereira,M., Fortune,M.T. and Monckton,D.G. (2001) Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specific, 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
  • 51
    • 0033525081 scopus 로고    scopus 로고
    • Expansion and deletion of triplet repeat sequences in Escherichia coli on the leading strand of DNA replication
    • Iyer,R.R. and Wells,R.D. (1999) Expansion and deletion of triplet repeat sequences in Escherichia coli 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
  • 52
    • 0029897408 scopus 로고    scopus 로고
    • Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range
    • Mornet,E., Chateau,C., Hirst,M.C., Thepot,F., Taillandier,A., Cibois,O. and Serre,J.L. (1996) Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range. Hum. Mol. Genet., 5, 821-825.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 821-825
    • Mornet, E.1    Chateau, C.2    Hirst, M.C.3    Thepot, F.4    Taillandier, A.5    Cibois, O.6    Serre, J.L.7
  • 53
    • 1242293782 scopus 로고    scopus 로고
    • Expansion of GAA triplet repeats in the human genome: Unique origin of the FRDA mutation at the center of an Alu
    • Clark,R.M., Dalgliesh,G.L., Endres,D., Gómez,M., Taylor,J. and Bidichandani,S.I. (2004) Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics, 83, 373-383.
    • (2004) Genomics , vol.83 , pp. 373-383
    • Clark, R.M.1    Dalgliesh, G.L.2    Endres, D.3    Gómez, M.4    Taylor, J.5    Bidichandani, S.I.6


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