CAG repeat expansions create splicing acceptor sites and produce aberrant repeat-containing RNAs

Anderson et  al. show that expanded CAG trinucleotide repeats produce 3′ splice sites. Proximal donors splice into the repeats in a repeat-length-dependent manner generating unexpected repeat-containing mRNAs. This splicing may place repeats in AUG-initiated frames, potentially explaining aberrant, out-of-fr ame protein products.

Source: Molecular Cell - January 30, 2024 Category: Cytology Authors: Rachel Anderson, Michael R. Das, Yeonji Chang, Kelsey Farenhem, Cameron O. Schmitz, Ankur Jain Tags: Article Source Type: research