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Molecular biological effect of Rbm20 I538T knock-in mice on skeletal muscle
Aya Miura1, Takuma Yamamoto1, Minori Nishiguchi1
1Department of Legal Medicine, Hyogo Medical University, Nishinomiya, Japan.
Introduction:
RBM20 regulates pre-mRNA splicing, and its mutations cause dilated cardiomyopathy by disrupting cardiac RNA splicing, particularly of the TTN gene. While RBM20 is known to affect TTN splicing in the heart, its role in skeletal muscle remains unclear. This study investigated the effects of an RBM20 variant using an Rbm20 I538T knock-in mouse model, performing pathological and RNA-seq analyses to assess its impact on skeletal muscle.
Methods:
We used Rbm20 I538T knock-in mouse and performed pathological and RNA-seq analyses to evaluate the effect of the variant on skeletal muscle.
Results And Discussion:
Histopathological examination revealed no skeletal muscle abnormalities in any genotype. Although potential splicing effects on Ttn and Ldb3 were considered, no abnormal splicing was detected. Differentially expressed gene analysis showed no differences among genotypes. Therefore, we conclude that the Rbm20 I538T variant does not affect the splicing of skeletal structural proteins or lead to a skeletal muscle phenotype.
