Extended Data Fig. 5: Mis-splicing in the Mbnl DKD CAD cells. | Nature Neuroscience

Extended Data Fig. 5: Mis-splicing in the Mbnl DKD CAD cells.

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. 5

a, Differential AS analysis in Mbnl DKD compared to control (N = 3) CAD cells. The percentage of mis-spliced AS events (left) and genes (right) in the Mbnl DKD. b, ASD-relevant gene set enrichment analysis for mis-spliced genes in Mbnl DKD (N = 3). Diamonds represent the odds ratio. Error bars depict the 95% confidence interval. #FDR ≤ 0.10, *FDR < 0.05, **FDR < 0.01, ***FDR < 0.001, ****FDR < 0.0001. c, UCSC Genome browser view of human ANK2 illustrates the conservation of miE 12 bp and intronic MBNL-binding motifs across multiple species. d, Binding affinity of recombinant MBNL1 to normal and mutant Ank2 RNA sequences expressed as a Kd value (3 replicas). e, Heterologous Atp2a1 splicing minigene regulation by MBNL proteins in HeLa cells (N = 4). Two-tailed t-test; ****P < 0.0001. d,e, Data are presented as mean values ± SD.

Source data

Back to article page