AI Article Synopsis
- Alternative splicing is disrupted in myotonic dystrophy type 1 (DM1), linked to CTG repeat expansions in the myotonic dystrophy protein kinase gene.
- The study focuses on Tau exon 6, revealing decreased inclusion of exon 6c and increased inclusion of exon 6d in DM1 brains, while splicing alterations were not noted in DM1 muscle.
- Co-transfection experiments show that splicing factors CELF and MBNL1 affect Tau exon 6 splicing, highlighting the need to understand all exons and tissues involved in splicing dysregulation in DM1.
Article Abstract
Alternative splicing is altered in myotonic dystrophy of type 1 (DM1), a syndrome caused by an increase of CTG triplet repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene. Previously, we reported the preferential skipping of Tau exon 2 in DM1 brains. In this study, we analyze the alternative splicing of Tau exon 6 which can be inserted in three different forms (c, p and d) depending on the 3' splice site used. In fact, inclusion of exon 6c decreases in DM1 brains compared to control brains whereas inclusion of 6d increases. Alteration of exon 6 splicing was not observed in DM1 muscle although this exon was inserted in RNAs from normal muscle and DM1 splicing alterations were first described in this organ. In contrast, alteration of exon 2 of Tau mRNA was observed in both muscle and brain. However, co-transfections of a minigene containing exon 6 with CELF or MBNL1 cDNAs, two splicing factor families suspected to be involved in DM1, showed that they influence exon 6 splicing. Altogether, these results show the importance of determining all the exons and organs targeted by mis-splicing to determine the dysregulation mechanisms of mis-splicing in DM1.
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| http://dx.doi.org/10.1016/j.bbadis.2005.12.003 | DOI Listing |
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