ArticlePLoS genetics2013
Role of CTCF protein in regulating FMR1 locus transcription.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 44 citations in OpenAlex.
- Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons.Journal of neurodevelopmental disorders · 2026Article
- Article
- Regulatory role of LncRNA FMR1-AS1 in the pathogenesis of alzheimer's disease based on bioinformatics and in vitro experimental validation.Scientific reports · 2025Article
- Beyond the Synapse:International journal of molecular sciences · 2024Review
- Identification of responsible sequences which mutations cause maternal H19-ICR hypermethylation with Beckwith-Wiedemann syndrome-like overgrowth.Communications biology · 2024Article
- Review
- CTCF in parvalbumin-expressing neurons regulates motor, anxiety and social behavior and neuronal identity.Molecular brain · 2022Article
- Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases.Frontiers in aging neuroscience · 2022Review
- Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis.Journal of neuroinflammation · 2021Article
- DNA Methylation, Mechanisms ofBiomolecules · 2021Review
- Review
- Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.Human genetics · 2020Article
- The Contribution of Pluripotent Stem Cell (PSC)-Based Models to the Study of Fragile X Syndrome (FXS).Brain sciences · 2019Review
- Pharmacological Reactivation of the SilencedBrain sciences · 2019Review
- Exosomal FMR1-AS1 facilitates maintaining cancer stem-like cell dynamic equilibrium via TLR7/NFκB/c-Myc signaling in female esophageal carcinoma.Molecular cancer · 2019Article
- The emerging roles for the chromatin structure regulators CTCF and cohesin in neurodevelopment and behavior.Cellular and molecular life sciences : CMLS · 2018Review
- Abnormal Microglia and Enhanced Inflammation-Related Gene Transcription in Mice with Conditional Deletion ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Size and methylation mosaicism in males with Fragile X syndrome.Expert review of molecular diagnostics · 2017Article
- The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.Human molecular genetics · 2016Article
- Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1), starting from both promoter and intron 2 of the FMR1 gene, was demonstrated in transcriptionally active alleles, but not in silent FXS alleles. Moreover, a DNA methylation boundary, which is lost in FXS, was recently identified upstream of the FMR1 gene. Several nuclear proteins bind to this region, like the insulator protein CTCF. Here we demonstrate for the first time that rare unmethylated full mutation (UFM) alleles present the same boundary described in wild type (WT) alleles and that CTCF binds to this region, as well as to the FMR1 gene promoter, exon 1 and intron 2 binding sites. Contrariwise, DNA methylation prevents CTCF binding to FXS alleles. Drug-induced CpGs demethylation does not restore this binding. CTCF knock-down experiments clearly established that CTCF does not act as insulator at the active FMR1 locus, despite the presence of a CGG expansion. CTCF depletion induces heterochromatinic histone configuration of the FMR1 locus and results in reduction of FMR1 transcription, which however is not accompanied by spreading of DNA methylation towards the FMR1 promoter. CTCF depletion is also associated with FMR1-AS1 mRNA reduction. Antisense RNA, like sense transcript, is upregulated in UFM and absent in FXS cells and its splicing is correlated to that of the FMR1-mRNA. We conclude that CTCF has a complex role in regulating FMR1 expression, probably through the organization of chromatin loops between sense/antisense transcriptional regulatory regions, as suggested by bioinformatics analysis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.