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Rbfox1 Downregulation and Altered Calpain 3 Splicing by FRG1 in a Mouse Model of Facioscapulohumeral Muscular Dystrophy (FSHD)

Figure 2

RT–PCR validation of splicing events belonging to different classes.

(a) RT-PCR performed using RNA extracted from vastus lateralis muscle of FRG1 and control littermates (n = 3 per group, 4 weeks old mice). Examples of increased exon skipping (Carm1), exon inclusion (Kank1) or intron retention (Sepx1) in FRG1 mice is shown. RT-PCR products from three individual FRG1 and control WT mice were quantified using the Typhoon and the skipping rates were calculated. Samples were judged as being different from WT if a t-test indicated that the sample was unlikely to be from the WT distribution with P<0.05. (b) Examples of alternative exons affected only (Prmt5), primarily (Capn3) or similarly (Itga7) in FRG1 mice vastus lateralis compared to biceps brachii muscles. Numbers below gel images are the percentage of exon inclusion. Black boxes illustrate constitutive exons, white boxes alternatively spliced exons and double lines represent the affected intron.

Figure 2

doi: https://doi.org/10.1371/journal.pgen.1003186.g002