Histone deacetylase complexes promote trinucleotide repeat expansions

PLoS Biology

Volumn 10, Issue 2, 2012, Pages

  Debacker, Kim ^a   Frizzell, Aisling ^a   Gleeson, Olive ^a   Kirkham McCarthy, Lucy ^a   Mertz, Tony ^a   Lahue, Robert S ^a  

^a NATIONAL UNIVERSITY OF IRELAND   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE ACETYLTRANSFERASE PCAF; HISTONE DEACETYLASE; ENDONUCLEASE; P300-CBP-ASSOCIATED FACTOR; SACCHAROMYCES CEREVISIAE PROTEIN; SAE2 PROTEIN, S CEREVISIAE; SMALL INTERFERING RNA;

ANIMAL CELL; ARTICLE; BIOSENSOR; CELL EXPANSION; CELL VIABILITY; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; GENE SILENCING; HISTONE ACETYLATION; HUMAN; HUMAN CELL; MOLECULAR GENETICS; MOUSE; MUTAGENESIS; NONHUMAN; PHENOTYPE; REPORTER GENE; RNA INTERFERENCE; SEQUENCE HOMOLOGY; TRINUCLEOTIDE REPEAT; ASTROCYTE; CELL CULTURE; DRUG EFFECT; GENETICS; METABOLISM; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SACCHAROMYCETALES; WESTERN BLOTTING;

MUS MUSCULUS; SACCHAROMYCETALES;

ASTROCYTES; BLOTTING, WESTERN; CELLS, CULTURED; CHROMATIN IMMUNOPRECIPITATION; ENDONUCLEASES; GENE KNOCKDOWN TECHNIQUES; HISTONE DEACETYLASES; HUMANS; MUTATION; P300-CBP TRANSCRIPTION FACTORS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, SMALL INTERFERING; SACCHAROMYCES CEREVISIAE PROTEINS; SACCHAROMYCETALES; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84857485218     PISSN: 15449173     EISSN: 15457885     Source Type: Journal    
DOI: 10.1371/journal.pbio.1001257     Document Type: Article

References (48)

1. Orr H. T, Zoghbi H. Y, (2007) Trinucleotide repeat disorders. Annu Rev Neurosci 30: 575-621.
2. Mirkin S. M, (2007) Expandable DNA repeats and human disease. Nature 447: 932-940.
3. Castel A. L, Cleary J. D, Pearson C. E, (2010) Repeat instability as the basis for human diseases and as a potential target for therapy. Nat Rev Mol Cell Biol 11: 165-170.
4. McMurray C. T, (2010) Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet 11: 786-799.
5. Fu Y-H, Kuhl D. P. A, Pizzuti A, Pieretti M, Sutcliffe J. S, et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67: 1047-1058.
6. Manley K, Shirley T. L, 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.
7. Kovtun I. V, McMurray C. T, (2001) Trinucleotide expansion in haploid germ cells by gap repair. Nat Genet 27: 407-411.
8. van den Broek W. J. A. A, Nelen M. R, Wansink D. G, Coerwinkel M. M, 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.
9. 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.
10. Wheeler V. C, Lebel L-A, Vrbanac V, Teed A, te Riele H, et al. (2003) Mismatch repair gene Msh2 modifies the timing of early disease in HdhQ111 striatum. Hum Mol Genet 12: 273-281.
11. Gomes-Pereira M, Fortune M. T, Ingram L, McAbney J. P, Monckton D. G, (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.
12. Kovtun I. V, Liu Y, Bjoras M, Klungland A, Wilson S. H, et al. (2007) OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 447: 447-452.
13. Hubert L Jr, Lin Y, Dion V, Wilson J. H, (2011) Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. Hum Mol Genet 20: 4822-4830.
14. Owen B. A. L, Yang Z, Lai M, Gajek M, Badger J. D II, et al. (2005) (CAG)n-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat Struct Mol Biol 12: 663-670.
15. Brinkmann R. R, Mezei M. M, Theilmann J, Almqvist E, Hayden M. R, (1997) The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 60: 1202-1210.
16. Paulson H. L, Fischbeck K. H, (1996) Trinucleotide repeats in neurogenetic disorders. Annu Rev Neurosci 19: 79-107.
17. Leeflang E. P, Zhang L, Tavare S, Hubert R, Srinidhi J, et al. (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet 4: 1519-1526.
18. Rolfsmeier M. L, Dixon M. J, Pessoa-Brandao L, Pelletier R, Miret J. J, et al. (2001) Cis-elements governing trinucleotide repeat instability in Saccharomyces cerevisiae. Genetics 157: 1569-1579.
19. Sundararajan R, Gellon L, Zunder R. M, Freudenreich C. H, (2010) Double-strand break repair pathways protect against CAG/CTG repeat expansions, contractions and repeat-mediated chromosomal fragility in Saccharomyces cerevisiae. Genetics 184: 65-77.
20. Bernstein B. E, Tong J. K, Schreiber S. L, (2000) Genomewide studies of histone deacetylase function in yeast. Proc Natl Acad Sci U S A 97: 13708-13713.
21. Lin Y-Y, Qi Y, Lu J-Y, Pan X, Yuan D. S, et al. (2008) A comprehensive synthetic genetic interaction network governing yeast histone acetylation and deacetylation. Genes Dev 22: 2062-2074.
22. Jung J, Bonini N, (2007) CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease. Science 315: 1857-1859.
23. Yang X-J, Seto E, (2008) The Rpd3/Hda1 family of lysine deacetylases: from bacteria and yeast to mice and men. Nat Rev Mol Cell Biol 9: 206-218.
24. Herman D, Jenssen K, Burnett R, Soragni E, Perlman S. L, et al. (2006) Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol 2: 551-558.
25. Thomas E. A, Coppola G, Desplats P. A, Tang B, Soragni E, et al. (2008) The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice. Proc Natl Acad Sci U S A 105: 15564-15569.
26. Shelbourne P. F, Keller-McGandy C, Bi W. L, Yoon S. R, Dubeau L, et al. (2007) Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain. Hum Mol Genet 16: 1133-1142.
27. Claassen D. A, Lahue R. S, (2007) Expansions of CAG•CTG repeats in immortalized human astrocytes. Hum Mol Genet 16: 3088-3096.
28. Xu C, Soragni E, Chou C. J, Herman D, Plasterer H. L, et al. (2009) Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing. Chem Biol 16: 980-989.
29. Fazzio T. G, Kooperberg C, Goldmark J. P, Neal C, Basom R, et al. (2001) Widespread collaboration of Isw2 and Sin3-Rpd3 chromatin remodeling complexes in transcriptional repression. Mol Cell Biol 21: 6450-6460.
30. Rundlett S. E, Carmen A. A, Suka N, Turner B. M, Grunstein M, (1998) Transcriptional repression by UME6 involves deacetylation of lysine 5 of histone H4 by RPD3. Nature 392: 831-835.
31. Carrozza M. J, Li B, Florens L, Suganuma T, Swanson S. K, et al. (2005) Histone H3 methylation by Set2 directs deacetylation of coding regions by Rpd3S to suppress spurious intragenic transcription. Cell 123: 581-592.
32. Robert T, Vanoli F, Chiolo I, Shubassi G, Bernstein K. A, et al. (2011) HDACs link the DNA damage response, processing of double-strand breaks and autophagy. Nature 471: 74-79.
33. Lobachev K. S, Gordenin D. A, Resnick M. A, (2002) The Mre11 complex is required for repair of hairpin-capped double-strand breaks and prevention of chromosome rearrangements. Cell 108: 183-193.
34. Lengsfeld B. M, Rattray A. J, Bhaskara V, Ghirlando R, Paull T. T, (2007) Sae2 is an endonuclease that processes hairpin DNA cooperatively with the Mre11/Rad50/Xrs2 complex. Mol Cell 28: 638-651.
35. Miret J. J, Pessoa-Brandao L, Lahue R. S, (1998) Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc Natl Acad Sci U S A 95: 12438-12443.
36. Bhattacharyya S, Lahue R. S, (2004) Yeast Srs2 DNA helicase selectively blocks expansions of trinucleotide repeats. Mol Cell Biol 24: 7324-7330.
37. Filippova G. N, Thienes C. P, Penn B. H, Cho D. H, Hu Y. J, et al. (2001) CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat Genet 28: 335-343.
38. Libby R. T, Hagerman K. A, Pineda V. V, Lau R, Cho D. H, et al. (2008) CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genet 4: e1000257 doi:10.1371/journal.pgen.1000257.
39. Dion V, Lin Y, Hubert L Jr, Waterland R. A, Wilson J. H, (2008) Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline. Hum Mol Genet 17: 1306-1317.
40. Vogelauer M, Rubbi L, Lucas I, Brewer B. J, Grunstein M, (2002) Histone acetylation regulates the time of replication origin firing. Mol Cell 10: 1223-1233.
41. Aparicio J. G, Viggiani C. J, Gibson D. G, Aparicio O. M, (2004) The Rpd3-Sin3 histone deacetylase regulates replication timing and enables intra-S origin control in Saccharomyces cerevisiae. Mol Cell Biol 24: 4769-4780.
42. Knott S. R. V, Viggiani C. J, Tavare S, Aparicio O. M, (2009) Genome-wide replication profiles indicate an expansive role for Rpd3L in regulating replication initiation timing or efficiency, and reveal genomic loci of Rpd3 function in Saccharomyces cerevisiae. Genes Dev 23: 1077-1090.
43. Unnikrishnan A, Gafken P. R, Tsukiyama T, (2010) Dynamic changes in histone acetylation regulate origins of DNA replication. Nat Struct Mol Biol 17: 430-437.
44. Butler R, Bates G. P, (2006) Histone deacetylase inhibitors as therapeutics for polyglutamine disorders. Nat Rev Neurosci 7: 784-796.
45. Kazantsev A. G, Thompson L. M, (2008) Therapeutic application of histone deacetylase inhibitors for central nervous system disorders. Nat Rev Drug Disc 7: 854-868.
46. Yang W-M, Yao Y-L, Sun J-M, Davie J. R, Seto E, (1997) Isolation and characterization of cDNAs corresponding to an additional member of the human histone deacetylase gene family. J Biol Chem 272: 28001-28007.
47. Suka N, Suka Y, Carmen A. A, Wu J, Grunstein M, (2001) Highly specific antibodies determine histone acetylation site usage in yeast heterochromatin and euchromatin. Mol Cell 8: 473-479.
48. Hirt B, (1967) Selective extraction of polyoma DNA from infected mouse cell cultures. J Mol Biol 26: 365-369.