Extended Data Fig. 2: miE mis-splicing in Mbnl cDKO frontal cortex. | Nature Neuroscience

Extended Data Fig. 2: miE mis-splicing in Mbnl cDKO frontal cortex.

From: Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes

Extended Data Fig. 2

a, Differential AS analysis in frontal cortex of Mbnl cDKO compared to littermate WT control (N = 3 males). The percentage of mis-spliced AS events (left) and genes (right) in the Mbnl cDKO. b, ASD-relevant gene set enrichment analysis for mis-spliced genes in Mbnl cDKO (N = 3). Diamonds represent the odds ratio. Error bars depict the 95% confidence interval. c, Quantification of coordinate Ank2 miE and A3SS mis-splicing in Mbnl cDKO (N = 3) and WT (N = 3) RNA-seq samples. d, Examples of miE mis-splicing in ASD-risk genes. Sashimi plots of Mbnl cDKO (N = 3) and WT (N = 3) RNA-seq samples for Nrxn1 miE, Shank3 miE, and Dmd miE. Modeled structures of mouse protein isoform regions containing a sequence encoded by miE (magenta box). c,d, Data are presented as mean values ± SD. b,c,d, #FDR < 0.10, *FDR < 0.05, **FDR < 0.01, ***FDR < 0.001, ****FDR < 0.0001.

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