Assessing the effect of bovine MSTN variants on pre-mRNA splicing.

ABSTRACT: The myostatin protein is a potent negative regulator of skeletal muscle growth encoded by the MSTN gene. MSTN loss-of-function variants lead to a particular cattle phenotype characterized by an increase in skeletal muscle mass, known as "double muscling" or "double muscled". However, most of the MSTN causal variants that have been linked to this phenotype lack experimental validation. This is the case, for example, for the five missense MSTN variants reported to be causal according to the Online Mendelian Inheritance in Animals. RNA splicing plays a major role in regulating gene expression; therefore, exploring the effects of variants on RNA splicing may provide relevant information on their functional impact. Here, we have set up a full-length gene assay (FLGA) to functionally assess MSTN

SUBMITTER: Gaiani N 

PROVIDER: S-EPMC12857249 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature