ArticleNucleic acids research2002
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.
Article in Nucleic acids research, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 117 citations in OpenAlex.
- Article
- MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia.Epigenetics & chromatin · 2025Article
- Defining the 3'Epigenetic Boundary of theInternational journal of molecular sciences · 2023Article
- Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases.Frontiers in aging neuroscience · 2022Review
- DNA Methylation, Mechanisms ofBiomolecules · 2021Review
- Multi-Omics Characterization of Inflammatory Bowel Disease-Induced Hyperplasia/Dysplasia in theInternational journal of molecular sciences · 2020Article
- Reactivation of FMR1 gene expression is a promising strategy for fragile X syndrome therapy.Gene therapy · 2020Review
- Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons.The European journal of neuroscience · 2020Article
- Article
- Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.Molecular autism · 2019Article
- Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.PloS one · 2019Article
- Recent advances in assays for the fragile X-related disorders.Human genetics · 2017Review
- Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells.Stem cells (Dayton, Ohio) · 2017Article
- Review
- The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.Human molecular genetics · 2016Article
- Review
- Human pluripotent stem cell models of Fragile X syndrome.Molecular and cellular neurosciences · 2016Review
- Defining the role of the CGGBP1 protein in FMR1 gene expression.European journal of human genetics : EJHG · 2016Article
- Molecular medicine of fragile X syndrome: based on known molecular mechanisms.World journal of pediatrics : WJP · 2016Review
- Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.Epigenetics & chromatin · 2016Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In fragile X syndrome, hypermethylation of the expanded CGG repeat and of the upstream promoter leads to transcriptional silencing of the FMR1 gene. Absence of the FMR1 protein results in mental retardation. We previously proved that treatment with 5-azadeoxycytidine (5-azadC) of fragile X cell lines results in reactivation of the FMR1 gene. We now show that this treatment causes passive demethylation of the FMR1 gene promoter. We employed the bisulfite-sequencing technique to detect the methylation status of individual CpG sites in the entire promoter region, upstream of the CGG repeat. Lymphoblastoid cell lines of fragile X males with full mutations of different sizes were tested before and after treatment with 5-azadC at various time points. We observed that individual cells are either completely unmethylated or not, with few relevant exceptions. We also investigated the extent of methylation in the full mutation (CGG repeat) itself by Southern blot analysis after digestion with methylation-sensitive enzymes Fnu4HI and McrBC and found that the CGG repeat remains at least partially methylated in many cells with a demethylated promoter. This may explain the quantitative discrepancy between the large extent of promoter demethylation and the limited levels of FMR1 transcriptional reactivation estimated by quantitative real-time fluorescent RT-PCR analysis.
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