Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene

Human Molecular Genetics

Volumn 8, Issue 12, 1999, Pages 2317-2323

  Chiurazzi, Pietro ^a,b   Pomponi, M Grazia ^a   Pietrobono, Roberta ^a   Bakker, Cathy E ^b   Neri, Giovanni ^a   Oostra, Ben A ^b  

^a CATHOLIC UNIVERSITY   (Italy)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; ARYLBUTYRIC ACID DERIVATIVE; BUTYRIC ACID; HISTONE; MESSENGER RNA; TRICHOSTATIN A;

ACETYLATION; ARTICLE; CONTROLLED STUDY; DEMETHYLATION; DNA METHYLATION; FRAGILE X SYNDROME; GENE ACTIVATION; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRINUCLEOTIDE REPEAT;

ACETYLATION; AZACITIDINE; BASE SEQUENCE; CELL LINE; DNA METHYLATION; DNA PRIMERS; ENZYME INHIBITORS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HISTONE DEACETYLASES; HISTONES; HUMANS; MALE; NERVE TISSUE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS;

EID: 0032741429     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.12.2317     Document Type: Article

References (46)

1. Oostra, B.A. and Willems, P.J. (1995) A fragile gene. Bioessays, 17, 941-947.
2. Hagerman, R.J., Hull, C.E., Safanda, J.F., Carpenter, I., Staley, L.W., O'Connor, R.A., Seydel, C., Mazzocco, M.M., Snow, K., Thibodeau, S.N., Kuhl, D., Nelson, D.L., Caskey, C.T. and Taylor, A.K. (1994) High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am. J. Med. Genet., 51, 298-308.
3. Smeets, H.J., Smits, A.P., Verheij, C.E., Theelen, J.P., Willemsen, R., van de Burgt, I., Hoogeveen, A.T., Oosterwijk, J.C. and Oostra, B.A. (1995) Normal phenotype in two brothers with a full FMR1 mutation. Hum. Mol. Genet., 4, 2103-2108.
4. de Vries, B.B., Jansen, C.C., Duits, A.A., Verheij, C., Willemsen, R., van Hemel, J.O., van den Ouweland, A.M., Niermeijer, M.F., Oostra, B.A. and Halley, D.J. (1996) Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J. Med. Genet., 33, 1007-1010.
5. Chiurazzi, P., Pomponi, M.G., Willemsen, R., Oostra, B.A. and Neri, G. (1998) In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum. Mol. Genet., 7, 109-113.
6. Eden, S., Hashimshony, T., Keshet, I., Cedar, H. and Thorne, A.W. (1998) DNA methylation models histone acetylation. Nature, 394, 842.
7. Jones, P.L., Veenstra, G.J., Wade, P.A., Vermaak, D., Kass, S.U., Landsberger, N., Strouboulis, J. and Wolffe, A.P. (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nature Genet., 19, 187-191.
8. Nan, X., Ng, H.H., Johnson, C.A., Laherty, C.D., Turner, B.M., Eisenman, R.N. and Bird, A. (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature, 393, 386-389.
9. Davie, J.R. and Candido, E.P. (1978) Acetylated histone H4 is preferentially associated with template-active chromatin. Proc. Natl Acad. Sci. USA, 75, 3574-3577.
10. Grunstein, M. (1997) Histone acetylation in chromatin structure and transcription. Nature, 389, 349-352.
11. Kuo, M.H. and Allis, C.D. (1998) Roles of histone acetyltransferases and deacetylases in gene regulation. Bioessays, 20, 615-626.
12. Lea, M.A. and Randolph, V.M. (1998) Induction of reporter gene expression by inhibitors of histone deacetylase. Anticancer Res., 18, 2717-2722.
13. Pomponi, M.G. and Neri, G. (1994) Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro. Am. J. Med. Genet., 51, 447-450.
14. Cousens, L.S., Gallwitz, D. and Alberts, B.M. (1979) Different accessibilities in chromatin to histone acetylase. J. Biol. Chem., 254, 1716-1723.
15. Yoshida, M., Kijima, M., Akita, M. and Beppu, T. (1990) Potent and specific inhibition of mammalian histone deacetylase both in vivo and in vitro by trichostatin A. J. Biol. Chem., 265, 17174-17179.
16. Yoshida, M., Horinouchi, S. and Beppu, T. (1995) Trichostatin A and trapoxin: novel chemical probes for the role of histone acetylation in chromatin structure and function. Bioessays, 17, 423-430.
17. 2 phases by trichostatin A. Exp. Cell Res., 177, 122-131.
18. Kouzarides, T. (1999) Histone acetylases and deacetylases in cell proliferation. Curr. Opin. Genet. Dev., 9, 40-48.
19. Kass, S.U., Landsberger, N. and Wolffe, A.P. (1997) DNA methylation directs a time-dependent repression of transcription initiation. Curr. Biol., 7, 157-165.
20. Razin, A. (1998) CpG methylation, chromatin structure and gene silencing - a three-way connection. EMBO J., 17, 4905-4908.
21. Ng, H.H. and Bird, A. (1999) DNA methylation and chromatin modification. Curr. Opin. Genet. Dev., 9, 158-163.
22. Luger, K., Mader, A.W., Richmond, R.K., Sargent, D.F. and Richmond, T.J. (1997) Crystal structure of the nucleosome core particle at 2.8 Å resolution. Nature, 389, 251-260.
23. Jeppesen, P. and Turner, B.M. (1993) The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression. Cell, 74, 281-289.
24. Johnson, C.A., O'Neill, L.P., Mitchell, A. and Turner, B.M. (1998) Distinctive patterns of histone H4 acetylation are associated with defined sequence elements within both heterochromatic and euchromatic regions of the human genome. Nucleic Acids Res., 26, 994-1001.
25. David, G., Alland, L., Hong, S.H., Wong, C.W., DePinho, R.A. and Dejean, A. (1998) Histone deacetylase associated with mSin3A mediates repression by the acute promyelocytic leukemia-associated PLZF protein. Oncogene, 16, 2549-2556.
26. Clarke, D.J., O'Neill, L.P. and Turner, B.M. (1993) Selective use of H4 acetylation sites in the yeast Saccharomyces cerevisiae. Biochem. J., 294, 557-561.
27. Turner, B.M., Birley, A.J. and Lavender, J. (1992) Histone H4 isoforms acetylated at specific lysine residues define individual chromosomes and chromatin domains in Drosophila polytene nuclei. Cell, 69, 375-384.
28. Juttermann, R., Li, E. and Jaenisch, R. (1994) Toxicity of 5-aza-2′-deoxycytidine to mammalian cells is mediated primarily by covalem trapping of DNA methyltransferase rather than DNA demethylation. Proc. Natl Acad. Sci. USA, 91, 11797-11801.
29. Stöger, R., Kajimura, T.M., Brown, W.T. and Laird, C.D. (1997) Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1. Hum. Mol. Genet., 6, 1791-1801.
30. Luo, S., Robinson, J.C., Reiss, A.L. and Migeon, B.R. (1993) DNA methylation of the fragile X locus in somatic and germ cells during fetal development: relevance to the fragile X syndrome and X inactivation. Somat. Cell Mol. Genet., 19, 393-404.
31. Coffee, B., Zhang, F., Warren, S.T. and Reines, D. (1999) Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nature Genet., 22, 98-101.
32. Cameron, E.E., Bachman, K.E., Myohanen, S., Herman, J.G. and Baylin, S.B. (1999) Synergy of demethylation and historic deacetylase inhibition in the re-expression of genes silenced in cancer. Nature Genet., 21, 103-107.
33. 1 phase but inhibits both the early and late G, progression in chemically transformed mouse fibroblasts BP-A31. J Cell. Physiol., 145, 46-52.
34. 1 arrest results from p21-independent disruption of retinoblastoma protein-mediated signals. Cell Growth Differ., 9, 465-474.
35. Newmark, H.L., Lupton, J.R. and Young, C.W. (1994) Butyrate as a differentiating agent: pharmacokinetics, analogues and current status. Cancer Lett., 78, 1-5.
36. Devys, D., Lutz, Y., Rouyer, N., Bellocq, J.P. and Mandel, J.L. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genet., 4, 335-340.
37. Atweh, G.F., Sutton, M., Nassif, I., Boosalis, V., Dover, G.J., Wallenstein, S., Wright, E., McMahon, L., Stamatoyannopoulos, G., Faller, D.V. and Perrine, S.P. (1999) Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease. Blood, 93, 1790-1797.
38. Kornberg, R.D. and Lorch, Y. (1999) Chromatin-modifying and -remodeling complexes. Curr. Opin. Genet. Dev., 9, 148-151.
39. Pollard, K.J. and Peterson, C.L. (1998) Chromatin remodeling: a marriage between two families? Bioessays, 20, 771-780.
40. Wong, C.W. and Privalsky, M.L. (1998) Transcriptional repression by the SMRT-mSin3 corepressor: multiple interactions, multiple mechanisms, and a potential role for TFIIB. Mol. Cell. Biol., 18, 5500-5510.
41. Jeddeloh, J.A., Stokes, T.L. and Richards, E.J. (1999) Maintenance of genomic methylation requires a SWI2/SNF2-like protein. Nature Genet., 22, 94-97.
42. McCaffrey, P.G., Newsome, D.A., Fibach, E., Yoshida, M. and Su, M.S. (1997) Induction of gamma-globin by histone deacetylase inhibitors. Blood, 90, 2075-2083.
43. Collins, A.F., Pearson, H.A., Giardina, P., McDonagh, K.T., Brusilow, S.W. and Dover, G.J. (1995) Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial. Blood, 85, 43-49.
44. Rubenstein, R.C. and Zeitlin, P.L. (1998) A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function. Am. J. Respir. Crit. Care Med., 157, 484-490.
45. Kemp, S., Wei, H.M., Lu, J.F., Braiterman, L.T., McGuinness, M.C., Moser, A.B., Watkins, P.A. and Smith, K.D. (1998) Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nature Med., 4, 1261-1268.
46. Lowrey, C.H. and Nienhuis, A.W. (1993) Brief report: treatment with azacytidine of patients with end-stage beta-thalassemia. N. Engl. J. Med., 329, 845-848.