Corneal endothelial changes and trinucleotide repeat expansion of DRPLA gene
نویسندگان
چکیده
منابع مشابه
DNA Methylation and Trinucleotide Repeat Expansion Diseases
DNA methylation of CpG dinucleotides is essential for mammalian development, X inactivation, genomic imprinting, and may also be involved in immobilization of transposons and the control of tissue-specific gene expression (Bird & Wolffe, 1999). The common theme in each of these processes is gene silencing. Therefore, gene silencing is a major biological consequence of DNA methylation. As such, ...
متن کاملTrinucleotide repeat expansion and human disease.
Eleven human loci, responsible for nine diseases, exhibit an unprecedented form of mutation: the expansion of trinucleotide repeats. Normally polymorphic CGG/CCG or CAG/CTG repeats (means of approximately 20 triplets) are found enlarged to either 2-3 or 10-1000 times normal lengths. The smaller expansions are found within genes coding for polyglutamine and are associated with neurodegenerative ...
متن کاملTrinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy
Purpose To identify RNA missplicing events in human corneal endothelial tissue isolated from Fuchs' endothelial corneal dystrophy (FECD). Methods Total RNA was isolated and sequenced from corneal endothelial tissue obtained during keratoplasty from 12 patients with FECD and 4 patients undergoing keratoplasty or enucleation for other indications. The length of the trinucleotide repeat (TNR) CT...
متن کاملExpansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy.
PURPOSE To analyze the expansion of CTG18.1 allele associated with Fuchs' corneal dystrophy (FCD) in our large cohort of late-onset FCD cases. METHODS CTG repeats within the CTG18.1 allele were estimated by short tandem repeat (STR) and triplet primed PCR (TP-PCR) assays in our large cohort of 574 late-onset FCD cases and 354 controls and large multigeneration familial cases. The age versus s...
متن کاملA Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy
Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation. Variation in the transcription factor 4 (TCF4) gene has been identified as a major contributor to the disease. We tested for an association between an intronic TGC trinucleotide repeat in TCF4 and FECD by determining repeat length in 66 a...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1999
ISSN: 0007-1161
DOI: 10.1136/bjo.83.1.123c