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- W2020138247 abstract "In myotonic dystrophy type 1 (DM1), triplet repeat expansion in the 3′ untranslated region of dystrophia myotonica protein kinase (DMPK) causes the nuclear retention of mutant messenger RNA (mRNA). Although the DMPK gene locus positions precisely at the outer edge of a factor-rich SC-35 domain, the normal mRNA consistently accumulates within the domain, and this RNA is depleted upon transcriptional inhibition. In DM1, mutant transcripts detach from the gene but accumulate in granules that abut but do not enter SC-35 domains, suggesting that RNA entry into the domain is blocked. Despite their exclusion from these compartments, mutant transcripts are spliced. MBNL1 (muscleblind-like protein 1) is an alternative splicing factor that becomes highly concentrated with mutant RNA foci. Small interfering RNA–mediated knockdown of MBNL1 promotes the accumulation or entry of newly synthesized mutant transcripts in the SC-35 domain. Collectively, these data suggest that an initial step in the intranuclear path of some mRNAs is passage from the gene into an SC-35 domain and implicate these structures in postsplicing steps before export." @default.
- W2020138247 created "2016-06-24" @default.
- W2020138247 creator A5006711527 @default.
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- W2020138247 creator A5054217555 @default.
- W2020138247 creator A5062431266 @default.
- W2020138247 creator A5080170366 @default.
- W2020138247 date "2007-09-10" @default.
- W2020138247 modified "2023-10-14" @default.
- W2020138247 title "Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains" @default.
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- W2020138247 doi "https://doi.org/10.1083/jcb.200706048" @default.
- W2020138247 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2064620" @default.
- W2020138247 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17846170" @default.
- W2020138247 hasPublicationYear "2007" @default.
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