ArticleNucleic acids research1997
Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression.
Article in Nucleic acids research, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 38 citations in OpenAlex.
- Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.Emerging topics in life sciences · 2023Review
- Matamatas Chelus spp. (Testudines, Chelidae) have a remarkable evolutionary history of sex chromosomes with a long-term stable XY microchromosome system.Scientific reports · 2022Article
- Mode and Tempo of Microsatellite Evolution across 300 Million Years of Insect Evolution.Genes · 2020Article
- Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome.Science (New York, N.Y.) · 2014Article
- Article
- The role of estrogen receptor-alpha gene TA polymorphism and aromatase gene TTTA polymorphism on peak bone mass attainment in males: is there an additive negative effect of certain allele combinations?Journal of bone and mineral metabolism · 2009Article
- 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
- Genotype-phenotype analysis for the polymorphic CA repeat in the insulin-like growth factor-I (IGF-I) gene.European journal of epidemiology · 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
- Epstein-barr virus-positive gastric carcinoma demonstrates frequent aberrant methylation of multiple genes and constitutes CpG island methylator phenotype-positive gastric carcinoma.The American journal of pathology · 2002Article
- 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
- Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.Nucleic acids research · 1998Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome is associated with a CGG repeat expansion in the 5'-untranslated region of the FMR-1 gene. Within the FMR-1 promoter a CpG island is frequently methylated in fragile X patients. To identify the effect of methylation on FMR-1 expression, we transfected methylated and unmethylated constructs containing the FMR-1 promoter in front of the CAT gene (pFXCAT) into COS-1 cells. No difference between methylated and unmethylated DNA was observed initially, whereas reduced CAT mRNA levels were observed 48 h post-transfection of the methylated construct and increased CAT activity from unmethylated DNA was observed at 72 h. To determine the effect of a CGG repeat expansion on gene expression, we inserted >200 CGG repeats between the SV40 promoter and the CAT gene (pSV2CAT). A 3-fold reduction in CAT activity was observed 24-48 h post-transfection. To study the correlation between CGG repeat expansion and FMR-1 transcription, we inserted 200 CGG trinucleotide repeats into the pFXCAT construct. Only a slight difference in mRNA levels was found between cells transfected with pFX(CGG)200CAT or pFXCAT, but a complete lack of CAT activity was observed with introduction of the repeat. We conclude that a moderate size repeat markedly reduces translation. We propose that the presence of a repeat expansion per se is the major factor influencing FMR-1 function in fragile X syndrome.
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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.