ArticleEpigenetics & chromatin2016
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.
Article in Epigenetics & chromatin, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- S-adenosylmethionine as an epigenetic treatment of depression in adults with childhood trauma.Epigenomics · 2026Trial
- TGF-β-induced epigenetic deregulation of SOCS3 facilitates STAT3 signaling to promote fibrosis.The Journal of clinical investigation · 2020Trial
- Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons.Journal of neurodevelopmental disorders · 2026Article
- Article
- Sustained Epigenetic Reactivation in Fragile X Neurons with an RNA-Binding Small Molecule.Genes · 2025Article
- EZH2 inhibition reactivates epigenetically silencedFrontiers in neuroscience · 2024Article
- Epigenetic insights into Fragile X Syndrome.Frontiers in cell and developmental biology · 2024Review
- Antisense oligonucleotide rescue of CGG expansion-dependentProceedings of the National Academy of Sciences of the United States of America · 2023Article
- DNA Methylation, Mechanisms ofBiomolecules · 2021Review
- Review
- Reactivation of FMR1 gene expression is a promising strategy for fragile X syndrome therapy.Gene therapy · 2020Review
- Article
- Article
- Differential DNA Methylation Encodes Proliferation and Senescence Programs in Human Adipose-Derived Mesenchymal Stem Cells.Frontiers in genetics · 2020Article
- Pharmacological Reactivation of the SilencedBrain sciences · 2019Review
- Of Men and Mice: Modeling the Fragile X Syndrome.Frontiers in molecular neuroscience · 2018Article
- DNA methylation inhibitor causes cell growth retardation and gene expression changes in feline lymphoma cells.The Journal of veterinary medical science · 2017Article
- Inhibitors of Histone Deacetylases Are Weak Activators of theBioMed research international · 2017Article
- Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundFragile X syndrome (FXS) is caused by CGG expansion over 200 repeats at the 5' UTR of the FMR1 gene and subsequent DNA methylation of both the expanded sequence and the CpGs of the promoter region. This epigenetic change causes transcriptional silencing of the gene. We have previously demonstrated that 5-aza-2-deoxycytidine (5-azadC) treatment of FXS lymphoblastoid cell lines reactivates the FMR1 gene, concomitant with CpG sites demethylation, increased acetylation of histones H3 and H4 and methylation of lysine 4 on histone 3.
resultsIn order to check the specificity of the 5-azadC-induced DNA demethylation, now we performed bisulphite sequencing of the entire methylation boundary upstream the FMR1 promoter region, which is preserved in control wild-type cells. We did not observe any modification of the methylation boundary after treatment. Furthermore, methylation analysis by MS-MLPA of PWS/AS and BWS/SRS loci demonstrated that 5-azadC treatment has no demethylating effect on these regions. Genome-wide methylation analysis through Infinium 450K (Illumina) showed no significant enrichment of specific GO terms in differentially methylated regions after 5-azadC treatment. We also observed that reactivation of FMR1 transcription lasts up to a month after a 7-day treatment and that maximum levels of transcription are reached at 10-15 days after last administration of 5-azadC.
conclusionsTaken together, these data demonstrate that the demethylating effect of 5-azadC on genomic DNA is not random, but rather restricted to specific regions, if not exclusively to the FMR1 promoter. Moreover, we showed that 5-azadC has a long-lasting reactivating effect on the mutant FMR1 gene.
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