ArticleAmerican journal of human genetics1997
Characterization of FMR1 promoter elements by in vivo-footprinting analysis.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 59 citations in OpenAlex.
- Modeling neurodegenerative and neurodevelopmental disorders in theLearning & memory (Cold Spring Harbor, N.Y.) · 2024Review
- The Application of Adeno-Associated Viral Vector Gene Therapy to the Treatment of Fragile X Syndrome.Brain sciences · 2019Review
- Human pluripotent stem cell models of Fragile X syndrome.Molecular and cellular neurosciences · 2016Review
- Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.European journal of human genetics : EJHG · 2011Article
- A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.American journal of human genetics · 2009Article
- Age- and sex-dependent differential interaction of nuclear trans-acting factors with Fmr-1 promoter in mice brain.Neurochemical research · 2008Article
- The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors.Nucleic acids research · 2006Article
- The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter.The Biochemical journal · 2005Article
- Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect.BMC molecular biology · 2003Article
- Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.Nucleic acids research · 2002Article
- Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.American journal of human genetics · 2001Article
- Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Journal of medical genetics · 2000Article
- Methylation-dependent gene silencing induced by interleukin 1beta via nitric oxide production.The Journal of experimental medicine · 1999Article
- Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.American journal of human genetics · 1999Article
- The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.American journal of human genetics · 1998Article
Corrections and comments
- Erratum issuedDörfler W [corrected to Döerfler W]
Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome is associated with silencing of the FMR1 gene. We studied the transcriptional regulation, by analysis of the FMR1 promoter region for the presence of in vivo protein/DNA interactions and for cytosine methylation at the single-nucleotide level. Four protein-binding sites were present in the unmethylated promoter of the active FMR1 gene. In the methylated promoter of inactive genes no footprints were detected, and no evidence of active repression was found in the region investigated. We propose that the silencing of FMR1 gene transcription results from a lack of transcription-factor binding.
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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.