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- W3175055276 abstract "Spinocerebellar ataxia type 7 is a polyglutamine repeat disease characterized by retinal and cerebellar degeneration. The causative mutation is an expansion of a CAG repeat in the first coding exon of the ataxin-7 gene. As with other unstable trinucleotide repeat loci, bidirectional transcription occurs at the repeat region, with the antisense transcript overlapping the first and second coding exons of the sense transcript. Interestingly, the antisense transcript is processed into multiple fragments. The 5’-end of the antisense transcript is retained in the nucleus, while the remaining fragment is exported to the cytoplasm, where it is further processed. RNase A/T1 dsRNA duplex assays indicated the presence of dsRNAs, while northern blot analysis revealed small RNAs (20–60 nt), suggesting small processed RNA fragments are produced by convergent transcription at the ataxin-7 locus. Dicer-1 knockdown on primary mouse cerebellar astroctyes with an integrated ataxin-7 genomic fragment, detected a significant increase in ataxin-7 sense expression, suggesting evidence for Dicer-1-dependent processing. Funding from the NIH supported this research: R01 GM59356 and ARRA award GM59356-09-S1." @default.
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- W3175055276 date "2012-04-01" @default.
- W3175055276 modified "2023-09-23" @default.
- W3175055276 title "Convergent Transcription at the Ataxin‐7 Locus Produces dsRNA Fragments that are Processed by Dicer‐1" @default.
- W3175055276 doi "https://doi.org/10.1096/fasebj.26.1_supplement.747.4" @default.
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