Selectable System for Monitoring the Instability of CTG/CAG Triplet Repeats in Mammalian Cells

REFERENCES

• Blencowe, B. J. 2000. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem. Sci. 25: 106–110.
   PubMed Web of Science ®Google Scholar
• Bowater, R. P., A. Jaworski, J. E. Larson, P. Parniewski, and R. D. Wells. 1997. Transcription increases the deletion frequency of long CTG·CAG triplet repeats from plasmids in Escherichia coli. Nucleic Acids Res. 25: 2861–2868.
   PubMed Web of Science ®Google Scholar
• Bowater, R. P., and R. D. Wells. 2001. The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders. Prog. Nucleic Acid Res. Mol. Biol. 66: 159–202.
   Google Scholar
• Brock, G. J. R., N. H. Anderson, and D. G. Monckton. 1999. Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Hum. Mol. Genet. 8: 1061–1067.
   PubMed Web of Science ®Google Scholar
• Butler, R., P. N. Leigh, M. J. McPhaul, and J. M. Gallo. 1998. Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy. Hum. Mol. Genet. 7: 121–127.
   PubMed Web of Science ®Google Scholar
• Cleary, J. D., K. Nichol, Y. H. Wang, and C. E. Pearson. 2002. Evidence of cis-acting factors in replication-mediated repeat instability in primate cells. Nat. Genet. 31: 37–46.
   PubMed Web of Science ®Google Scholar
• Coulter, L. R., M. A. Landree, and T. A. Cooper. 1997. Identification of a new class of exonic splicing enhancers by in vivo selection. Mol. Cell. Biol. 17: 2143–2150.
   PubMed Web of Science ®Google Scholar
• DiFiglia, M., E. Sapp, K. O. Chase, S. W. Davies, G. P. Bates, J. P. Vonsattel, and N. Aronin. 1997. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277: 1990–1993.
   PubMed Web of Science ®Google Scholar
• Freudenreich, C. H., S. M. Kantrow, and V. A. Zakian. 1998. Expansion and length-dependent fragility of CTG repeats in yeast. Science 279: 853–856.
   PubMed Web of Science ®Google Scholar
• Fu, X.-D. 1995. The superfamily of arginine/serine-rich splicing factors. RNA 1: 663–680.
   PubMed Web of Science ®Google Scholar
• Gersappe, A., and D. Pintel. 1999. CA- and purine-rich elements form a novel bipartite exon enhancer which governs inclusion of the minute virus of mice NS2-specific exon in both singly and doubly spliced mRNAs. Mol. Cell. Biol. 19: 364–375.
   PubMedGoogle Scholar
• Goldberg, Y. P., D. W. Nicholson, D. M. Rasper, M. A. Kalchman, H. B. Koide, R. K. Graham, M. Bromm, P. Kazemi-Esfarjani, N. A. Thornberry, J. P. Vaillancourt, and M. R. Hayden. 1996. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat. Genet. 13: 442–449.
   PubMed Web of Science ®Google Scholar
• Harriman, G. R., A. Bradley, S. Das, P. Rogers-Fani, and A. C. Davis. 1996. IgA class switch in I alpha exon-deficient mice. Role of germline transcription in class switch recombination. J. Clin. Investig. 97: 477–485.
   PubMedGoogle Scholar
• Hashem, V. I., W. A. Rosche, and R. R. Sinden. 2002. Genetic assays for measuring rates of (CAG)·(CTG) repeat instability in Escherichia coli. Mutat. Res. 2002: 25–37.
   Google Scholar
• Igarashi, S., R. Koide, T. Shimohata, M. Yamada, Y. Hayashi, H. Takano, H. Date, M. Oyake, T. Sato, A. Sato, S. Egawa, T. Ikeuchi, H. Tanaka, R. Nakano, T. K., I. Hozumi, T. Inuzuka, H. Takahashi, and S. Tsuji. 1998. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat. Genet. 18: 111–117.
   PubMed Web of Science ®Google Scholar
• Ikeda, H., M. Yamaguchi, S. Sugai, Y. Aze, S. Narumiya, and A. Kakizuka. 1996. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat. Genet. 13: 196–202.
   PubMed Web of Science ®Google Scholar
• Iyer, R. R., A. Pluciennik, W. A. Rosche, R. R. Sinden, and R. D. Wells. 2000. DNA polymerase III proofreading mutants enhance the expansion and deletion of triplet repeat sequences in E. coli. J. Biol. Chem. 275: 2174–2181.
   Google Scholar
• Jakupciak, J. P., and R. D. Wells. 2000. Gene conversion (recombination) mediates expansions of CTG/CAG repeats. J. Biol. Chem. 275: 40003–40013.
   PubMedGoogle Scholar
• Jakupciak, J. P., and R. D. Wells. 1999. Genetic instabilities in CTG/CAG repeats occur by recombination. J. Biol. Chem. 274: 23468–23479.
   PubMedGoogle Scholar
• Jankowski, C., F. Nasar, and D. K. Nag. 2000. Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast. Proc. Natl. Acad. Sci. USA 97: 2134–2139.
   PubMed Web of Science ®Google Scholar
• Jaworski, A., W. A. Rosche, R. Gellibolian, S. Kang, M. Shimizu, R. P. Bowater, R. R. Sinden, and R. D. Wells. 1995. Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases. Proc. Natl. Acad. Sci. USA 92: 11019–11023.
   PubMed Web of Science ®Google Scholar
• Kang, S., A. Jaworski, K. Ohshima, and R. D. Wells. 1995. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat. Genet. 10: 213–218.
   Google Scholar
• Kovtun, I. V., and C. T. McMurray. 2001. Trinucleotide expansion in haploid germ cells by gap repair. Nat. Genet. 27: 407–411.
   PubMed Web of Science ®Google Scholar
• Lunkes, A., and J. L. Mandel. 1998. A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum. Mol. Genet. 7: 1355–1361.
   PubMed Web of Science ®Google Scholar
• Lynch, K. W., and T. Maniatis. 1995. Synergistic interaction between two distinct elements of a regulated splicing enhancer. Genes Dev. 9: 284–293.
   PubMed Web of Science ®Google Scholar
• Manley, J., and R. Tacke. 1996. SR proteins and splicing control. Genes Dev. 10: 1569–1579.
   PubMed Web of Science ®Google Scholar
• Manley, K., T. L. Shirley, L. Flaherty, and A. Messer. 1999. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 23: 471–473.
   PubMed Web of Science ®Google Scholar
• Martindale, D., A. Hackam, A. Wieczorek, L. Ellerby, C. Wellington, K. McCutcheon, R. Singaraja, P. Kazemi-Esfarjani, R. Devon, S. U. Kim, D. E. Bredesen, F. Tufaro, and M. R. Hayden. 1998. Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat. Genet. 18: 150–154.
   PubMed Web of Science ®Google Scholar
• Matzuk, M. M., M. J. Finegold, J. G. Su, A. J. Hsueh, and A. Bradley. 1992. Alpha-inhibin is a tumour-suppressor gene with gonadal specificity in mice. Nature 360: 313–319.
   PubMed Web of Science ®Google Scholar
• Maurer, D. J., B. L. O'Callaghan, and D. M. Livingston. 1996. Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae. Mol. Cell. Biol. 16: 6617–6622.
   PubMed Web of Science ®Google Scholar
• Merrihew, R. V., R. G. Sargent, and J. H. Wilson. 1995. Efficient modification of the APRT gene by FLP/FRT site-specific targeting. Somat. Cell Mol. Genet. 21: 299–307.
   PubMedGoogle Scholar
• Merry, D. E., Y. Kobayashi, C. K. Bailey, A. A. Taye, and K. H. Fischbeck. 1998. Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Hum. Mol. Genet. 7: 693–701.
   PubMedGoogle Scholar
• Meservy, J. M., R. G. Sargent, R. R. Iyer, F. Chan, G. J. McKenzie, R. D. Wells, and J. H. Wilson. 2003. Long CTG tracks from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Mol. Cell. Biol. 23: 3152–3162.
   PubMedGoogle Scholar
• Miret, J. J., L. Pessoa-Brandao, and R. S. Lahue. 1998. Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. USA 95: 12438–12443.
   PubMed Web of Science ®Google Scholar
• Oussatcheva, E. A., V. I. Hashem, Y. Zou, R. R. Sinden, and V. N. Potaman. 2001. Involvement of the nucleotide excision repair protein UvrA in instability of CAG·CTG repeat sequences in Escherichia coli. J. Biol. Chem. 276: 30878–30884.
   PubMed Web of Science ®Google Scholar
• Padgett, R. A., P. J. Grabowski, M. M. Konarska, S. Seiler, and P. A. Sharp. 1986. Splicing of messenger RNA precursors. Annu. Rev. Biochem. 55: 1119–1150.
   PubMed Web of Science ®Google Scholar
• Panigrahi, G. B., J. D. Cleary, and C. E. Pearson. 2002. In vitro (CTG)·(CAG) expansions and deletions by human cell extracts. J. Biol. Chem. 277: 13926–13934.
   PubMed Web of Science ®Google Scholar
• Parniewski, P., A. Bacolla, A. Jaworski, and R. D. Wells. 1999. Nucleotide excision repair affects the stability of long transcribed (CTG·CAG) tracts in an orientation-dependent manner in Escherichia coli. Nucleic Acids Res. 27: 616–623.
   PubMed Web of Science ®Google Scholar
• Pluciennik, A., R. R. Iyer, M. Napierala, J. E. Larson, M. Filutowicz, and R. D. Wells. 2002. Long CTG·CAG repeats from myotonic dystrophy are preferred sites for intermolecular recombination. J. Biol. Chem. 277: 34074–34086.
   PubMed Web of Science ®Google Scholar
• Richard, G.-F., G. M. Goellner, C. T. McMurray, and J. E. Haber. 2000. Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. EMBO J. 19: 2381–2390.
   PubMed Web of Science ®Google Scholar
• Richard, G. F., B. Dujon, and J. E. Haber. 1999. Double-strand break repair can lead to high frequencies of deletions within short CAG/CTG trinucleotide repeats. Mol. Gen. Genet. 261: 871–882.
   PubMedGoogle Scholar
• Rolfsmeier, M. L., M. J. Dixon, and R. S. Lahue. 2000. Mismatch repair blocks expansions of interrupted trinucleotide repeats in yeast. Mol. Cell 6: 1501–1507.
   PubMedGoogle Scholar
• Sarkar, P. S., H. C. Chang, F. B. Boudi, and S. Reddy. 1998. CTG repeats show bimodal amplification in E. coli. Cell 95: 531–540.
   Google Scholar
• Schmidt, K. H., C. M. Abbot, and D. R. Leach. 2000. Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli. Mol. Microbiol. 35: 463–471.
   PubMedGoogle Scholar
• Schumacher, S., I. Pinet, and M. Bichara. 2001. Modulation of transcription reveals a new mechanism of triplet repeat instability in Escherichia coli. J. Mol. Biol. 307: 39–49.
   PubMedGoogle Scholar
• Schweitzer, J. K., and D. M. Livingston. 1997. Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast. Hum. Mol. Genet. 6: 349–355.
   PubMed Web of Science ®Google Scholar
• Sinden, R. R. 2001. Neurodegenerative diseases. Origins of instability. Nature 411: 757–758.
   PubMed Web of Science ®Google Scholar
• Steinbach, P., D. Glaser, W. Vogel, M. Wolf, and S. Schwemmle. 1998. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am. J. Hum. Genet. 62: 278–285.
   PubMedGoogle Scholar
• Taneja, K. L., M. McCurrach, M. Schalling, D. Housman, and R. H. Singer. 1995. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol. 128: 995–1002.
   PubMed Web of Science ®Google Scholar
• Tian, M., and T. Maniatis. 1992. Positive control of pre-mRNA splicing in vitro. Science 256: 237–240.
   PubMedGoogle Scholar
• Timchenko, L. T. 1999. Myotonic dystrophy: the role of RNA CUG triplet repeats. Am. J. Hum. Genet. 64: 360–364.
   PubMedGoogle Scholar
• Usdin, K., and E. Grabczyk. 2000. DNA repeat expansions and human disease. Cell. Mol. Life Sci. 57: 914–931.
   PubMed Web of Science ®Google Scholar
• van den Broek, W. J., M. R. Nelen, D. G. Wansink, M. M. Coerwinkel, H. te Riele, P. Groenen, and B. Wieringa. 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.
   PubMedGoogle Scholar
• Wang, Z., H. M. Hoffman, and P. J. Grabowski. 1995. Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity. RNA 1: 21–35.
   PubMed Web of Science ®Google Scholar
• Zoghbi, H. Y., and H. T. Orr. 2000. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 23: 217–247.
   PubMed Web of Science ®Google Scholar