CAG repeats mimic CUG repeats in the misregulation of alternative splicing
نویسندگان
چکیده
منابع مشابه
CAG repeats mimic CUG repeats in the misregulation of alternative splicing
Mutant transcripts containing expanded CUG repeats in the untranslated region are a pathogenic factor in myotonic dystrophy type 1 (DM1). The mutant RNA sequesters the muscleblind-like 1 (MBNL1) splicing factor and causes misregulation of the alternative splicing of multiple genes that are linked to clinical symptoms of the disease. In this study, we show that either long untranslated CAG repea...
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Genomic regions containing trinucleotide repeats (TNRs) are highly unstable, as the repeated sequences exhibit a high rate of mutational change, in which they undergo either a contraction or an expansion of repeat numbers. Although expansion of TNRs is associated with several human genetic diseases, the expansion mechanism is poorly understood. Extensive studies in model organisms have indicate...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2011
ISSN: 1362-4962,0305-1048
DOI: 10.1093/nar/gkr608