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- W1542302893 abstract "Myotonic dystrophy type 1 (DM1) is a multisystemic disease caused by a CTG repeat expansion in the 3′‐UTR of dystrophia myotonica‐protein kinase. Aberrant regulation of alternative splicing is a characteristic feature of DM. Dozens of genes have been found to be abnormally spliced; however, few reported splicing abnormalities explain the phenotypes of DM1 patients. Thus, we hypothesized that other, unknown abnormal splicing events exist. Here, by using exon array, we identified aberrant inclusion of myomesin 1 ( MYOM1 ) exon 17a as a novel splicing abnormality in DM1 muscle. A cellular splicing assay with a MYOM1 minigene revealed that not only MBNL1‐3 but also CELF1 and 2 decreased the inclusion of MYOM1 exon 17a in HEK293T cells. Expression of expanded CUG repeat impeded MBNL1 activity but did not affect CELF1 activity on the splicing of MYOM1 minigene. Our results suggest that the downregulation of MBNL proteins should lead to the abnormal splicing of MYOM1 exon 17a in DM1 muscle." @default.
- W1542302893 created "2016-06-24" @default.
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- W1542302893 date "2011-07-28" @default.
- W1542302893 modified "2023-10-18" @default.
- W1542302893 title "Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1" @default.
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- W1542302893 doi "https://doi.org/10.1111/j.1365-2443.2011.01542.x" @default.
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