OBSCN undergoes extensive alternative splicing throughout human cardiac and skeletal muscle development

Highly expressed in skeletal muscles, the gene Obscurin (i.e. OBSCN) has 121 non-overlapping exons and codes for some of the largest known mRNAs in human genome. Furthermore, it is known to play an essential role in muscle development and function. Mutations within OBSCN are known to cause several hypertrophic cardiomyopathies and muscular disorders. Even though OBSCN undergoes extensive alternative splicing, its splicing regulation associated with skeletal and cardiac muscle development has not previously been thoroughly studied. We study splicing of OBSCN in skeletal and cardiac muscles extracted from 41 postnatal individuals and 6 fetuses. We detect several splicing regulations located in 5’end, 3’ end, as well as in the middle of OBSCN. Many of these alternative splicing events have not previously been reported. These findings are essential for an accurate pre- and postnatal diagnosis and prognosis of OBSCN exonic variants. The muscle development OBSCN exon inclusion map is available at https://gacatag.shinyapps.io/OBSCN_PSIVIS/ .