메뉴 건너뛰기




Volumn 48, Issue 4, 2009, Pages 336-349

Genetic instabilities of (CCTG)-(CAGG) and (ATTCT)-(AGAAT) disease-associated repeats reveal multiple pathways for repeat deletion

Author keywords

Alternative DNA structure; DNA repeat instability; Genomic instability; Repeat deletion; Replication slippage; Sister chromosome exchange

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE; NUCLEIC ACID BINDING PROTEIN; REPETITIVE DNA; SPINOCEREBELLAR ATAXIA TYPE 10; UNCLASSIFIED DRUG;

EID: 65249123648     PISSN: 08991987     EISSN: 10982744     Source Type: Journal    
DOI: 10.1002/mc.20534     Document Type: Article
Times cited : (16)

References (75)
  • 1
    • 0034640011 scopus 로고    scopus 로고
    • Fourteen and counting: Unraveling trinucleotide repeat diseases
    • Cummings CJ, Zoghbi HY. Fourteen and counting: Unraveling trinucleotide repeat diseases. Hum Mol Genet 2000;9: 909-916.
    • (2000) Hum Mol Genet , vol.9 , pp. 909-916
    • Cummings, C.J.1    Zoghbi, H.Y.2
  • 2
    • 66149147155 scopus 로고    scopus 로고
    • In: M, Fry K, Usdin editors. Human nucleotide expansion disorders. Berlin: Springer
    • Sinden RR, Pytlos MJ, Potaman VN. Mechanisms of DNA repeat expansion. In: M, Fry K, Usdin editors. Human nucleotide expansion disorders. Berlin: Springer; 2006. pp. 3-53.
    • (2006) Mechanisms of DNA Repeat Expansion , pp. 3-53
    • Sinden, R.R.1    Pytlos, M.J.2    Potaman, V.N.3
  • 3
    • 0042759661 scopus 로고    scopus 로고
    • The contribution of CIS-elements to disease-associated repeat instability: Clinical and experimental evidence
    • Cleary JD, Pearson CE. The contribution of CIS-elements to disease-associated repeat instability: Clinical and experimental evidence. Cytogenet Genome Res 2003;100: 25-55.
    • (2003) Cytogenet Genome Res , vol.100 , pp. 25-55
    • Cleary, J.D.1    Pearson, C.E.2
  • 4
    • 25844438495 scopus 로고    scopus 로고
    • Repeat instability: Mechanisms of dynamic mutations
    • Pearson CE, Nichol EK, Cleary JD. Repeat instability: Mechanisms of dynamic mutations. Nat Rev Genet 2005;6: 729-742.
    • (2005) Nat Rev Genet , vol.6 , pp. 729-742
    • Pearson, C.E.1    Nichol, E.K.2    Cleary, J.D.3
  • 5
    • 0027180211 scopus 로고
    • Anticipation in spinocerebellar ataxia type 2
    • Pulst S-M, Nechiporuk A, Starkman S. Anticipation in spinocerebellar ataxia type 2. Nat Genet 1993;5: 8-10.
    • (1993) Nat Genet , vol.5 , pp. 8-10
    • Pulst, S.-M.1    Nechiporuk, A.2    Starkman, S.3
  • 6
    • 0029584496 scopus 로고
    • Trinucleotide repeat expansion and human disease
    • Ashley CT, Warren ST. Trinucleotide repeat expansion and human disease. Annu Rev Genet 1995;29: 703-728.
    • (1995) Annu Rev Genet , vol.29 , pp. 703-728
    • Ashley, C.T.1    Warren, S.T.2
  • 7
    • 0033771685 scopus 로고    scopus 로고
    • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    • Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000;26: 191-194.
    • (2000) Nat Genet , vol.26 , pp. 191-194
    • Matsuura, T.1    Yamagata, T.2    Burgess, D.L.3
  • 8
    • 0344100057 scopus 로고    scopus 로고
    • SCA10 and ATTCT repeat expansion: Clinical features and molecular aspects
    • Lin X, Ashizawa T. SCA10 and ATTCT repeat expansion: Clinical features and molecular aspects. Cytogenet Genome Res 2003;100: 184-188.
    • (2003) Cytogenet Genome Res , vol.100 , pp. 184-188
    • Lin, X.1    Ashizawa, T.2
  • 9
    • 0036194052 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 10 in the French population
    • Fujigasaki H, Tardieu S, Camuzat A, et al. Spinocerebellar ataxia type 10 in the French population. Ann Neurol 2002; 51: 408-409.
    • (2002) Ann Neurol , vol.51 , pp. 408-409
    • Fujigasaki, H.1    Tardieu, S.2    Camuzat, A.3
  • 10
    • 0037177096 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 10 is rare in populations other than Mexicans
    • Matsuura T, Ranum LP, Volpini V,et al. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology 2002;58: 983-984.
    • (2002) Neurology , vol.58 , pp. 983-984
    • Matsuura, T.1    Ranum, L.P.2    Volpini, V.3
  • 11
    • 0036340277 scopus 로고    scopus 로고
    • Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10
    • Grewal Rp, Achari M, Matsuura T, et al. Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol 2002;59: 1285-1290.
    • (2002) Arch Neurol , vol.59 , pp. 1285-1290
    • Grewal, Rp.1    Achari, M.2    Matsuura, T.3
  • 12
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293: 864-867.
    • (2001) Science , vol.293 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3
  • 13
    • 62549109350 scopus 로고    scopus 로고
    • In: RD, Wells T, Ashizawa editors. Genetic instabilities and neurological disease. Burlington, MA: Academic Press;
    • Krahe R, Bachinski LL, Udd B. Myotonic dystrophy type 2: Clinical and genetic aspects. In: RD, Wells T, Ashizawa editors. Genetic instabilities and neurological disease. Burlington, MA: Academic Press; 2006. pp. 131-150.
    • (2006) Myotonic Dystrophy Type 2: Clinical and Genetic Aspects , pp. 131-150
    • Krahe, R.1    Bachinski, L.L.2    Udd, B.3
  • 14
    • 0037465516 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
    • Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum. Neurology 2003;60: 657-664.
    • (2003) Neurology , vol.60 , pp. 657-664
    • Day, J.W.1    Ricker, K.2    Jacobsen, J.F.3
  • 15
    • 62149097986 scopus 로고    scopus 로고
    • Pre-mutation allele pool in myotonic dystrophy type 2 (DM2)
    • Bachinski LL, Czernuszewicz T, Ramagili LS, et al. Pre-mutation allele pool in myotonic dystrophy type 2 (DM2). Neurology 2008;72: 490-497.
    • (2008) Neurology , vol.72 , pp. 490-497
    • Bachinski, L.L.1    Czernuszewicz, T.2    Ramagili, L.S.3
  • 16
    • 0037157222 scopus 로고    scopus 로고
    • Genetic assays for measuring rates of (CAG)-(CTG) repeat instability in Escherichia Coli
    • Hashem VI, Rosche WA, Sinden RR. Genetic assays for measuring rates of (CAG)-(CTG) repeat instability in Escherichia coli. Mutat Res 2002;502: 25-37.
    • (2002) Mutat Res , vol.502 , pp. 25-37
    • Hashem, V.I.1    Rosche, W.A.2    Sinden, R.R.3
  • 18
    • 10244264815 scopus 로고    scopus 로고
    • Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia
    • Pollard LM, Sharma R, Gomez M, et al. Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res 2004;32: 5962-5971.
    • (2004) Nucleic Acids Res , vol.32 , pp. 5962-5971
    • Pollard, L.M.1    Sharma, R.2    Gomez, M.3
  • 19
    • 33244486739 scopus 로고    scopus 로고
    • Replication restart: A pathway for (CTG)-(CAG) repeat deletion in Escherichia coli
    • Kim SH, Pytlos MJ, Sinden RR. Replication restart: A pathway for (CTG)-(CAG) repeat deletion in Escherichia coli. Mutat Res 2006;595: 5-22.
    • (2006) Mutat Res , vol.595 , pp. 5-22
    • Kim, S.H.1    Pytlos, M.J.2    Sinden, R.R.3
  • 20
    • 0037072480 scopus 로고    scopus 로고
    • Long CTG-CAG repeats from myotonic dystrophy are preferred sites for intermolecular recombination
    • Pluciennik A, Iyer RR, Napierala M, Larson JE, Filutowicz M, Wells RD. Long CTG-CAG repeats from myotonic dystrophy are preferred sites for intermolecular recombination. J Biol Chem 2002;277: 34074-34086.
    • (2002) J Biol Chem , vol.277 , pp. 34074-34086
    • Pluciennik, A.1    Iyer, R.R.2    Napierala, M.3    Larson, J.E.4    Filutowicz, M.5    Wells, R.D.6
  • 21
    • 0029950726 scopus 로고    scopus 로고
    • Cloning, characterization, and properties of seven triplet repeat DNA sequences
    • Ohshima K, Kang S, Larson JE, Wells RD. Cloning, characterization, and properties of seven triplet repeat DNA sequences. J Biol Chem 1996;271: 16773-16783.
    • (1996) J Biol Chem , vol.271 , pp. 16773-16783
    • Ohshima, K.1    Kang, S.2    Larson, J.E.3    Wells, R.D.4
  • 22
    • 0029035379 scopus 로고
    • Expansion and deletion of CTG triplet repeats from human disease genes are determined by the direction of replication in
    • Kang S, Jaworski A, Ohshima K, Wells RD. Expansion and deletion of CTG triplet repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 1995;10: 213-218.
    • (1995) E. Coli. Nat Genet , vol.10 , pp. 213-218
    • Kang, S.1    Jaworski, A.2    Ohshima, K.3    Wells, R.D.4
  • 23
    • 1342325427 scopus 로고    scopus 로고
    • Structure- dependent recombination hot spot activity of GAA-TTC sequences from intron 1 of the Friedreich's ataxia gene
    • Napierala M, Dere R, Vetcher A, Wells RD. Structure- dependent recombination hot spot activity of GAA-TTC sequences from intron 1 of the Friedreich's ataxia gene. J Biol Chem 2004;279: 6444-6454.
    • (2004) J Biol Chem , vol.279 , pp. 6444-6454
    • Napierala, M.1    Dere, R.2    Vetcher, A.3    Wells, R.D.4
  • 24
    • 0028788635 scopus 로고
    • Mismatch repair in escherichia coli enhances instability of (CTG)n repeats from human hereditary diseases
    • Jaworski A, Rosche WA, Gellibolian R, et al. Mismatch repair in Escherichia coli enhances instability of (CTG)n repeats from human hereditary diseases. Proc Natl Acad Sci USA 1995; 92: 11019-11023.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 11019-11023
    • Jaworski, A.1    Rosche, W.A.2    Gellibolian, R.3
  • 25
    • 0029762671 scopus 로고    scopus 로고
    • Single-stranded DNA- binding protein enhances the stability of CTG triplet repeats in Escherichia coli
    • RoscheWA, Jaworski A, Kang S, et al. Single-stranded DNA- binding protein enhances the stability of CTG triplet repeats in Escherichia coli. J Bacteriol 1996;178: 5042-5044.
    • (1996) J Bacteriol , vol.178 , pp. 5042-5044
    • Rosche, W.A.1    Jaworski, A.2    Kang, S.3
  • 26
    • 0030598342 scopus 로고    scopus 로고
    • Relationship between escherichia coli growth and deletions of CTG-CAG triplet repeats in plasmids
    • Bowater RP, Rosche WA, Jaworski A, Sinden RR, Wells RD. Relationship between Escherichia coli growth and deletions of CTG-CAG triplet repeats in plasmids. J Mol Biol 1996;264: 82-96.
    • (1996) J Mol Biol , vol.264 , pp. 82-96
    • Bowater, R.P.1    Rosche, W.A.2    Jaworski, A.3    Sinden, R.R.4    Wells, R.D.5
  • 27
    • 4344611596 scopus 로고    scopus 로고
    • Genetic recombination destabilizes (CTG)n(CAG)n repeats in E. Coli
    • Hashem VI, Rosche WA, Sinden RR. Genetic recombination destabilizes (CTG)n(CAG)n repeats in E. coli. Mutat Res 2004;554: 95-109.
    • (2004) Mutat Res , vol.554 , pp. 95-109
    • Hashem, V.I.1    Rosche, W.A.2    Sinden, R.R.3
  • 28
    • 62549120069 scopus 로고    scopus 로고
    • A Z-DNA sequence reduces slipped strand structure formation in the myotonic dystrophy type 2 (CCTG)-(CAGG) repeat
    • (in press)
    • Edwards SF, Sirito M, Krahe R, Sinden RR. 2009; A Z-DNA sequence reduces slipped strand structure formation in the myotonic dystrophy type 2 (CCTG)-(CAGG) repeat. Proc Natl Acad Sci uSa (in press).
    • (2009) Proc Natl Acad Sci USA
    • Edwards, S.F.1    Sirito, M.2    Krahe, R.3    Sinden, R.R.4
  • 29
    • 0037470576 scopus 로고    scopus 로고
    • Unpaired structures in SCA10 (ATTCT)n-(AGAAT)n repeats
    • Potaman VN, BisslerJJ, Hashem VI, et al. Unpaired structures in SCA10 (ATTCT)n-(AGAAT)n repeats. J Mol Biol 2003;326: 1095-1111.
    • (2003) J Mol Biol , vol.326 , pp. 1095-1111
    • Potaman, V.N.1    Bissler, J.J.2    Hashem, V.I.3
  • 31
    • 0029161151 scopus 로고
    • Differential DNAsecondary structure-mediated deletion mutation in the leading and lagging strands
    • Rosche WA, TrinhTQ, Sinden RR. Differential DNAsecondary structure-mediated deletion mutation in the leading and lagging strands. J Bacteriol 1995;177: 4385-4391.
    • (1995) J Bacteriol , vol.177 , pp. 4385-4391
    • Rosche, W.A.1    Trinh, T.Q.2    Sinden, R.R.3
  • 32
    • 0026419949 scopus 로고
    • Preferential DNAsecondary structure mutagenesis in the lagging strand of replication in E. Coli
    • Trinh TQ, Sinden RR. Preferential DNAsecondary structure mutagenesis in the lagging strand of replication in E. coli. Nature 1991;352: 544-547.
    • (1991) Nature , vol.352 , pp. 544-547
    • Trinh, T.Q.1    Sinden, R.R.2
  • 33
    • 0037157227 scopus 로고    scopus 로고
    • Instability of repeated DNAs during transformation in Escherichia Coli
    • Hashem VI, Klysik EA, Rosche WA, Sinden RR. Instability of repeated DNAs during transformation in Escherichia coli. Mutat Res 2002;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
  • 34
    • 0025886466 scopus 로고
    • A constant rate of spontaneous mutation in DNA- based microbes
    • Drake JW. A constant rate of spontaneous mutation in DNA- based microbes. Proc Natl Acad Sci USA 1991;88: 7160-7164.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 7160-7164
    • Drake, J.W.1
  • 35
    • 33745286272 scopus 로고    scopus 로고
    • DM2 CCTG-CAGG repeats are crossover hotspots that are more prone to expansions than the DM1 CTG-CAG repeats in Escherichia coli
    • Dere R, Wells RD. DM2 CCTG-CAGG repeats are crossover hotspots that are more prone to expansions than the DM1 CTG-CAG repeats in Escherichia coli. J Mol Biol 2006;360: 21-36.
    • (2006) J Mol Biol , vol.360 , pp. 21-36
    • Dere, R.1    Wells, R.D.2
  • 36
    • 0027309530 scopus 로고
    • The influence of primaryand secondary DNA structure in deletion and duplication between direct repeats in Escherichia Coli
    • Trinh TQ, Sinden RR. The influence of primaryand secondary DNA structure in deletion and duplication between direct repeats in Escherichia coli. Genetics 1993;134: 409-422.
    • (1993) Genetics , vol.134 , pp. 409-422
    • Trinh, T.Q.1    Sinden, R.R.2
  • 37
    • 0030895078 scopus 로고    scopus 로고
    • Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
    • Freudenreich CH, Stavenhagen JB, Zakian VA. Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol Cell Biol 1997;17: 2090-2098.
    • (1997) Mol Cell Biol , vol.17 , pp. 2090-2098
    • Freudenreich, C.H.1    Stavenhagen, J.B.2    Zakian, V.A.3
  • 38
    • 0032514711 scopus 로고    scopus 로고
    • Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae
    • Miret JJ, Pessoa-Brandao L, Lahue RS. Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc Natl Acad Sci USA 1998;95: 12438-12443.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 12438-12443
    • Miret, J.J.1    Pessoa-Brandao, L.2    Lahue, R.S.3
  • 39
    • 0030737538 scopus 로고    scopus 로고
    • Trinucleotide repeats associated with human disease
    • Mitas M. Trinucleotide repeats associated with human disease. Nucleic Acids Res 1997;25: 2245-2253.
    • (1997) Nucleic Acids Res , vol.25 , pp. 2245-2253
    • Mitas, M.1
  • 40
    • 0032102835 scopus 로고    scopus 로고
    • Trinucleotide repeat DNA structures: Dynamic mutationsfrom dynamic DNA
    • Pearson CE, Sinden RR. Trinucleotide repeat DNA structures: Dynamic mutationsfrom dynamic DNA. Curr Opin Struct Biol 1998;8: 321-330.
    • (1998) Curr Opin Struct Biol , vol.8 , pp. 321-330
    • Pearson, C.E.1    Sinden, R.R.2
  • 41
    • 0032498265 scopus 로고    scopus 로고
    • Secondary structures in d(CGG) and d(CCG) repeat tracts
    • Darlow JM, Leach DRF. Secondary structures in d(CGG) and d(CCG) repeat tracts. J Mol Biol 1998;275: 3-16.
    • (1998) J Mol Biol , vol.275 , pp. 3-16
    • Darlow, J.M.1    Leach, D.R.F.2
  • 42
    • 4744369283 scopus 로고    scopus 로고
    • Hairpin structure- forming propensity of the (CCTG-CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2
    • Dere R, Napierala M, Ranum LP, Wells RD. Hairpin structure- forming propensity of the (CCTG-CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2. J Biol Chem 2004;279: 41715-41726.
    • (2004) J Biol Chem , vol.279 , pp. 41715-41726
    • Dere, R.1    Napierala, M.2    Ranum, L.P.3    Wells, R.D.4
  • 43
    • 0037133931 scopus 로고    scopus 로고
    • In vitro (CTG)-(CAG) expansionsand deletions by human cell extracts
    • Panigrahi GB, Cleary JD, Pearson CE. In vitro (CTG)-(CAG) expansionsand deletions by human cell extracts. J Biol Chem 2002;277: 13926-13934.
    • (2002) J Biol Chem , vol.277 , pp. 13926-13934
    • Panigrahi, G.B.1    Cleary, J.D.2    Pearson, C.E.3
  • 44
    • 0030725454 scopus 로고    scopus 로고
    • Trinucleotide repeats affect DNA replication in vivo
    • Samadashwily GM, Raca G, Mirkin SM. Trinucleotide repeats affect DNA replication in vivo. Nat Genet 1997;17: 298-304.
    • (1997) Nat Genet , vol.17 , pp. 298-304
    • Samadashwily, G.M.1    Raca, G.2    Mirkin, S.M.3
  • 45
    • 0032925369 scopus 로고    scopus 로고
    • Slipped misalignment mechanisms of deletion formation: In vivo susceptibility to nucleases
    • Bzymek M, Saveson CJ, Feschenko VV, Lovett ST. Slipped misalignment mechanisms of deletion formation: In vivo susceptibility to nucleases. J Bacteriol 1999;181: 477-482.
    • (1999) J Bacteriol , vol.181 , pp. 477-482
    • Bzymek, M.1    Saveson, C.J.2    Feschenko, V.V.3    Lovett, S.T.4
  • 46
    • 0025812665 scopus 로고
    • Molecular mechanisms of deletion formation in Escherichia coli
    • I. Deletion formation mediated by long direct repeats.
    • Dianov GL, Kuzminov AV, Mazin AV, Salganik RI. Molecular mechanisms of deletion formation in Escherichia coli plasmids. I. Deletion formation mediated by long direct repeats. Mol Gen Genet 1991;228:153-159.
    • (1991) Mol Gen Genet , vol.228 , pp. 153-159
    • Dianov, G.L.1    Kuzminov, A.V.2    Mazin, A.V.3    Salganik, R.I.4
  • 47
    • 0025816222 scopus 로고
    • Mechanisms of deletion formation in Escherichia coli plasmids. II. Deletions mediated by short direct repeats
    • Mazin AV, Kuzminov AV, Dianov GL, Salganik RI. Mechanisms of deletion formation in Escherichia coli plasmids. II. Deletions mediated by short direct repeats. Mol Gen Genet 1991;228: 209-214.
    • (1991) Mol Gen Genet , vol.228 , pp. 209-214
    • Mazin, A.V.1    Kuzminov, A.V.2    Dianov, G.L.3    Salganik, R.I.4
  • 48
    • 0027420692 scopus 로고
    • A sister-strand exchange mechanism for recA-independent deletion of repeated DNA sequences in Escherichia coli
    • LovettST, Drapkin PT, SuteraVA,Jr., Gluckman-PeskindTJ. A sister-strand exchange mechanism for recA-independent deletion of repeated DNA sequences in Escherichia coli. Genetics 1993;135: 631-642.
    • (1993) Genetics , vol.135 , pp. 631-642
    • Lovett, S.T.1    Drapkin, P.T.2    Sutera Jr., V.A.3    Gluckman-Peskind, T.J.4
  • 49
    • 0035902443 scopus 로고    scopus 로고
    • Instability of repetitive DNAsequences: The role of replication in multiple mechanisms
    • BzymekM, Lovett ST. Instability of repetitive DNAsequences: The role of replication in multiple mechanisms. Proc Natl Acad Sci USA 2001;98: 8319-8325.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 8319-8325
    • Bzymek, M.1    Lovett, S.T.2
  • 51
    • 0029877516 scopus 로고    scopus 로고
    • A replicational model for DNA recombination between direct repeats
    • Bi X, Liu LF. A replicational model for DNA recombination between direct repeats. J Mol Biol 1996;256: 849-858.
    • (1996) J Mol Biol , vol.256 , pp. 849-858
    • Bi, X.1    Liu, L.F.2
  • 52
    • 0030902447 scopus 로고    scopus 로고
    • Enhanced deletion formation by aberrant DNA replication in Escherichia Coli
    • Saveson CJ, Lovett ST. Enhanced deletion formation by aberrant DNA replication in Escherichia coli. Genetics 1997;146: 457-470.
    • (1997) Genetics , vol.146 , pp. 457-470
    • Saveson, C.J.1    Lovett, S.T.2
  • 54
    • 0026316183 scopus 로고
    • Fragile X syndrome: Genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site
    • Richards RI, Holman K, Kozman H, et al. Fragile X syndrome: Genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet 1991;28: 818-823.
    • (1991) J Med Genet , vol.28 , pp. 818-823
    • Richards, R.I.1    Holman, K.2    Kozman, H.3
  • 55
    • 0029900153 scopus 로고    scopus 로고
    • Reverse mutations in the fragile X syndrome
    • Brown WT, Houck GE, Jr., Ding X, et al. Reverse mutations in the fragile X syndrome. Am J Med Genet 1996;64: 287-292.
    • (1996) Am J Med Genet , vol.64 , pp. 287-292
    • Brown, W.T.1    Houck Jr., G.E.2    Ding, X.3
  • 56
    • 0028102488 scopus 로고
    • Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes
    • van den Ouweland AM, Deelen WH, Kunst CB, et al. Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet 1994; 3:1823-1827.
    • (1994) Hum Mol Genet , vol.3 , pp. 1823-1827
    • Van Den Ouweland, A.M.1    Deelen, W.H.2    Kunst, C.B.3
  • 57
    • 16944367290 scopus 로고    scopus 로고
    • Prenatal diagnosis of the fragile Xsyndrome: Loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus
    • Losekoot M, Hoogendoorn E, Olmer R, et al. Prenatal diagnosis of the fragile Xsyndrome: Loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. J Med Genet 1997;34: 924-926.
    • (1997) J Med Genet , vol.34 , pp. 924-926
    • Losekoot, M.1    Hoogendoorn, E.2    Olmer, R.3
  • 58
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1992;1: 192-195.
    • (1992) Nat Genet , vol.1 , pp. 192-195
    • Tsilfidis, C.1    MacKenzie, A.E.2    Mettler, G.3    Barcelo, J.4    Korneluk, R.G.5
  • 59
    • 0027511450 scopus 로고
    • Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission
    • O'Hoy KL, Tsilfidis C, Mahadevan MS, et al. Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 1993;259: 809-812.
    • (1993) Science , vol.259 , pp. 809-812
    • O'Hoy, K.L.1    Tsilfidis, C.2    Mahadevan, M.S.3
  • 60
    • 0026352538 scopus 로고
    • On the deletion of inverted repeated DNA in Escherichia coli: Effects of length, thermal stability, and cruciform formation in vivo
    • Sinden RR, Zheng G, Brankamp RG, Allen KN. On the deletion of inverted repeated DNA in Escherichia coli: Effects of length, thermal stability, and cruciform formation in vivo. Genetics 1991;129: 991-1005.
    • (1991) Genetics , vol.129 , pp. 991-1005
    • Sinden, R.R.1    Zheng, G.2    Brankamp, R.G.3    Allen, K.N.4
  • 61
    • 84882468921 scopus 로고    scopus 로고
    • DNA structures and genetic instabilities associated with SCA10 (ATTCT)n-(AGAAT)n repeats suggest A DNA amplification model for repeat expansion
    • Academic Press; In: RD, Wells T, Ashizawa editors.
    • Potaman VN, Pytlos MJ, Hashem VI, Bissler JJ, Leffak M, Sinden RR. DNA structures and genetic instabilities associated with SCA10 (ATTCT)n-(AGAAT)n repeats suggest a DNA amplification model for repeat expansion. In: RD, Wells T, Ashizawa editors. Genetic instabilities and neurological diseases. Academic Press; 2006. pp. 447-460.
    • (2006) Genetic instabilities and neurological diseases , pp. 447-460
    • Potaman, V.N.1    Pytlos, M.J.2    Hashem, V.I.3    Bissler, J.J.4    Leffak, M.5    Sinden, R.R.6
  • 62
    • 36048954457 scopus 로고    scopus 로고
    • Unstable spinocer- ebellar ataxia type 10 (ATTCT)-(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells
    • Liu G, Bissler JJ, Sinden RR, Leffak M. Unstable spinocer- ebellar ataxia type 10 (ATTCT)-(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells. Mol Cell Biol 2007;27: 7828-7838.
    • (2007) Mol Cell Biol , vol.27 , pp. 7828-7838
    • Liu, G.1    Bissler, J.J.2    Sinden, R.R.3    Leffak, M.4
  • 63
    • 0032568861 scopus 로고    scopus 로고
    • Expansion of CTG repeats from human disease genes is dependent upon replication mechanisms in escherichia coli - the effect of long patch mismatch repair revisited
    • Schumacher S, Fuchs RPP, Bichara M. Expansion of CTG repeats from human disease genes is dependent upon replication mechanisms in Escherichia coli-The effect of long patch mismatch repair revisited. J Mol Biol 1998;279: 1101-1110.
    • (1998) J Mol Biol , vol.279 , pp. 1101-1110
    • Schumacher, S.1    Fuchs, R.P.P.2    Bichara, M.3
  • 64
    • 0034674058 scopus 로고    scopus 로고
    • Length of CTG-CAG repeats determines the influence of mismatch repair on genetic instability
    • Parniewski P, Jaworski A, Wells RD, Bowater RP. Length of CTG-CAG repeats determines the influence of mismatch repair on genetic instability. J Mol Biol 2000;299: 865-874.
    • (2000) J Mol Biol , vol.299 , pp. 865-874
    • Parniewski, P.1    Jaworski, A.2    Wells, R.D.3    Bowater, R.P.4
  • 65
    • 0033955771 scopus 로고    scopus 로고
    • Two opposing effects of mismatch repair on CTG repeat instability in Escherichia Coli
    • Schmidt KH, Abbott CM, Leach DR. Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli. Mol Microbiol 2000;35: 463-471.
    • (2000) Mol Microbiol , vol.35 , pp. 463-471
    • Schmidt, K.H.1    Abbott, C.M.2    Leach, D.R.3
  • 66
    • 33947432388 scopus 로고    scopus 로고
    • Replication fork stalling at natural impediments
    • Mirkin EV, Mirkin SM. Replication fork stalling at natural impediments, Microbiol Mol Biol Rev 2007; 71: 13-35.
    • (2007) Microbiol Mol Biol Rev , vol.71 , pp. 13-35
    • Mirkin, E.V.1    Mirkin, S.M.2
  • 67
    • 1542344344 scopus 로고    scopus 로고
    • Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo
    • Krasilnikova MM, Mirkin SM. Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo. Mol Cell Biol 2004;24:2286-2295.
    • (2004) Mol Cell Biol , vol.24 , pp. 2286-2295
    • Krasilnikova, M.M.1    Mirkin, S.M.2
  • 69
    • 17644375808 scopus 로고    scopus 로고
    • Replication fork dynamics and dynamic mutations: The fork-shift model of repeat instability
    • Cleary JD, Pearson CE. Replication fork dynamics and dynamic mutations: The fork-shift model of repeat instability. Trends Genet 2005;21: 272-280.
    • (2005) Trends Genet , vol.21 , pp. 272-280
    • Cleary, J.D.1    Pearson, C.E.2
  • 70
    • 34250878426 scopus 로고    scopus 로고
    • Expandable DNA repeats and human disease
    • Mirkin SM. Expandable DNA repeats and human disease. Nature 2007;447: 932-940.
    • (2007) Nature , vol.447 , pp. 932-940
    • Mirkin, S.M.1
  • 71
    • 0032570754 scopus 로고    scopus 로고
    • Slipped misalignment mechanisms of deletion formation: Analysis of deletion endpoints
    • Feschenko VV, Lovett ST. Slipped misalignment mechanisms of deletion formation: Analysis of deletion endpoints. J Mol Biol 1998;276: 559-569.
    • (1998) J Mol Biol , vol.276 , pp. 559-569
    • Feschenko, V.V.1    Lovett, S.T.2
  • 72
    • 0018598277 scopus 로고
    • Nucleotide sequence analysis of the chloramphenicol resistance transposon Tn9
    • Alton NK, Vapnek D. Nucleotide sequence analysis of the chloramphenicol resistance transposon Tn9. Nature 1979;282: 864-869.
    • (1979) Nature , vol.282 , pp. 864-869
    • Alton, N.K.1    Vapnek, D.2
  • 73
    • 0029883805 scopus 로고    scopus 로고
    • Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci
    • Pearson CE, Sinden RR. Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 1996;35: 5041-5053.
    • (1996) Biochemistry , vol.35 , pp. 5041-5053
    • Pearson, C.E.1    Sinden, R.R.2
  • 74
    • 0028362201 scopus 로고
    • The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure
    • Fry M, Loeb LA. The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure. Proc Natl Acad Sci USA 1994;91: 4950-4954.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 4950-4954
    • Fry, M.1    Loeb, L.A.2
  • 75
    • 0029983269 scopus 로고    scopus 로고
    • Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene
    • Shimizu M, Gellibolian R, Oostra BA, Wells RD. Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene. J Mol Biol 1996; 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.