Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine

Nucleic Acids Research

Volumn 30, Issue 14, 2002, Pages 3278-3285

  Pietrobono, Roberta ^a   Pomponi, Maria Grazia ^a   Tabolacci, Elisabetta ^a   Oostra, Ben ^b   Chiurazzi, Pietro ^c   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c UNIVERSITY OF MESSINA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; BISULFITE; CYTOSINE; DEOXYRIBONUCLEASE; DNA; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE;

ARTICLE; CELL LINE; CONTROLLED STUDY; CPG ISLAND; DEMETHYLATION; DNA DEGRADATION; DNA METHYLATION; DNA SEQUENCE; FRAGILE X SYNDROME; GENE ACTIVATION; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MALE; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; TRANSCRIPTION INITIATION;

EID: 0037100616     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/gkf434     Document Type: Article

References (36)

1. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
2. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
3. Absence of expression of the FMR-1 gene in fragile X syndrome
4. Methylation analysis of CGG sites in the CpG is land of the human FMR1 gene
5. DNA methylation represses FMR-1 transcription in fragile X syndrome
6. High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR1 mutation associated with protein expression
7. Normal phenotype in two brothers with a full FMR1 mutation
8. In vitro reactivation of the FMR1 gene involved in fragile X syndrome
9. Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene
10. Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer
11. CpG methylation, chromatin structure and gene silencing-a three-way connection
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13. Characterization of FMR1 promoter elements by in vivo-footprinting analysis
14. Interaction of the transcription factors USF1, USF2, and α-Pa1/Nrf- 1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome
15. Elevated levels of FMRI mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
16. Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect
17. Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region
18. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
19. A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
20. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
21. In vitro DNA methylation inhibits FMR-1 promoter
22. Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression
23. Toxicity of 5-aza-2′-deoxycytidine to mammalian cells is mediated primarily by covalent trapping of DNA methyltransferase rather than DNA demethylation
24. Mutagenicity of 5-aza-2′-deoxycytidine is mediated by the mammalian DNA methyltransferase
25. Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
26. Characterization of the full fragile X syndrome mutation in fetal gametes
27. Creation of gerromic methylation patterns
28. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family
29. In vivo footprinting analysis of the FMR1 gene: Proposals concerning gene regulation in high-functioning males
30. Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA
31. A majority of fragile X males with methylated full mutation alleles have significant levels of FMR1 messenger RNA
32. Translational suppression by trinucleotide repeat expansion at FMR1
33. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
34. Methylation mosaicism of 5′-(CGG)(n)-3′ repeats in fragile X, premutation and normal individuals
35. The human 20-kDa 5′-(CGG)(n)-3′-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter
36. Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor