Absence of expression of the FMR-1 gene in fragile X syndrome.
Explore this paper's citation graph
Summary
FMR-1 mRNA was absent in the majority of male fragile X patients, suggesting a close involvement of this gene in development of the syndrome, and the methylation status of the BssHII site at the CpG island was studied.
- Type
- article
- Published
- 1991-08-23
- Cited by
- 1,454
- References
- 12
- OpenAlex
- https://openalex.org/W2002780348
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:31455523
Keywords
Biology, Fragile X syndrome, Exon, Locus (genetics), CpG site
References
- Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).
- Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
- Fragile X genotype characterized by an unstable region of DNA
- Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
- Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
- Molecular cloning and analysis of the fragile X region in man.
- Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
- New polymorphic DNA marker close to the fragile site FRAXA.
- Linear order of new and established DNA markers around the fragile site at Xq27.3.
- Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
- Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.
Cited by
- Clinical conundrums in fragile X syndrome
- Review: The fragile X syndrome: Isolation of the FMR-1 gene and characterization of the fragile X mutation
- Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
- CTG Triplet Repeat in Mouse Growth Inhibitory Factor/Metallothionein III Gene Promoter Represses the Transcriptional Activity of the Heterologous Promoters (*)
- Founder effect in a Belgian-Dutch fragile X population
- Reduced androgen receptor gene expression with first exon CAG repeat expansion.
- Precise localization of the FHIT gene to the common fragile site at 3p14.2 (FRA3B) and characterization of homozygous deletions within FRA3B that affect FHIT transcription in tumor cell lines
- Genetic redundancy in vertebrates: polyploidy and persistence of genes encoding multidomain proteins.
- Transcriptional Properties of RNA Polymerase II within Triplet Repeat-containing DNA from the Human Myotonic Dystrophy and Fragile X Loci*
- A neuropsychological profile of attention deficits in young males with fragile X syndrome
- Dynamic mutations: a decade of unstable expanded repeats in human genetic disease.
- Trinucleotide repeats: mechanisms and pathophysiology.
- Of mice and the fragile X syndrome.
- Augmentation of Auditory N1 in Children with Fragile X Syndrome
- The C terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre.
- Exploring the zebra finch Taeniopygia guttata as a novel animal model for the speech-language deficit of fragile X syndrome
- FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
- FXTAS: A progressive neurologic syndrome associated with fragile X premutation
- Repetitive sequence environment distinguishes housekeeping genes.
- Molecular and Genetic Analysis of the Drosophila Model of Fragile X Syndrome
Related papers
- A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.
- Methylation of CpG sites in BCL2 major breakpoint region and the increase of BCL2/JH translocation with aging
- The fragile X syndromes.
- Fragile site X chromosomes in mentally retarded boys.
- Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
- Cytogenetic and molecular analysis of dynamic mutation associated with fragile X syndrome.
- Two brothers with mental retardation discordant for the fragile-X syndrome.
- Genotype prediction in the fragile X syndrome.
- Nucleotide distance influences co-methylation between nearby CpG sites.