Article
Quantitative prediction of variant effects on alternative splicing in MAPT using endogenous pre-messenger RNA structure probing.
eLife - 13 Jun 2022
Kumar Jayashree, Lackey Lela, Waldern Justin M, Dey Abhishek, Mustoe Anthony M, Weeks Kevin M, Mathews David H, Laederach Alain
Abstract excerpt
Splicing is highly regulated and is modulated by numerous factors. Quantitative predictions for how a mutation will affect precursor mRNA (pre-mRNA) structure and downstream function are particularly challenging. Here, we use a novel chemical probing strategy to visualize endogenous precursor and mature MAPT mRNA structures in cells. We used these data to estimate Boltzmann suboptimal structural ensembles, which...
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