Possible Involvement of the RNAi Pathway in Trinucleotide Repeat Expansion Diseases

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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, ...

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Trinucleotide repeat diseases - antecipation diseases

Dynamic mutations involve expansion of the number of repeat units consisting of three or more nucleotides in tandem (i.e. adjacent to one another) present in a gene or in its neighborhood. These repeats may occur in different genes and may code for different aminoacids. According to expansions sizes, it is possible to have unaffected individuals that are carriers of a pre-mutation. Instability ...

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Trinucleotide 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 ...

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Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases

Trinucleotide-repeat expansion diseases (TREDs) are a group of inherited human genetic disorders normally involving late-onset neurological/neurodegenerative affectation. Trinucleotide-repeat expansions occur in coding and non-coding regions of unique genes that typically result in protein and RNA toxic gain of function, respectively. In polyglutamine (polyQ) disorders caused by an expanded CAG...

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Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases

Previous studies have examined DNA methylation in different trinucleotide repeat diseases. We have combined this data and used a pattern searching algorithm to identify motifs in the DNA surrounding aberrantly methylated CpGs found in the DNA of patients with one of the three trinucleotide repeat (TNR) expansion diseases: fragile X syndrome (FRAXA), myotonic dystrophy type I (DM1), or Friedreic...

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ژورنال

عنوان ژورنال: Journal of Biomolecular Structure and Dynamics

سال: 2005

ISSN: 0739-1102,1538-0254

DOI: 10.1080/07391102.2005.10531230