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

Figure 5

Alternative splicing changes are a primary consequence of FRG1 overexpression.

(a) Examples of alternative exons (Atl2) or introns (Ttn) spliced normally in the mouse model of Duchenne muscular dystrophy, mdx mice, and example of an alternative exon similarly altered in FRG1 and mdx mice (Ktn1). (b) RT-PCR analysis of mRNA splicing variants from proliferating (MB) and differentiating (MT) C2C12 muscle cells over-expressing FRG1. Examples of alternative splicing changes present in both MB and MT (Capn3), only in MB (Ablim1), or only in MT (Nasp). Numbers are the percentage of exon inclusion. Black boxes illustrate constitutive exons, white boxes alternatively spliced exons and double lines represent the affected intron.

Figure 5

doi: https://doi.org/10.1371/journal.pgen.1003186.g005