OBSCN undergoes extensive alternative splicing throughout human cardiac and skeletal muscle development. 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/ . Overall design: Fetal skeletal muscles (n=20) and fetal heart muscles (n=2), without muscle pathology, was obtained from voluntary termination of pregnancy (TOP). Furthermore, sample biopsies from an internal cohort of 41 individuals was collected. From the 2 fetuses (denoted with F1 and F2) various different muscle samples have been extracted. ------------------------------------- Authors state 'Raw data is not availalbe due to GDPR. For any further enquiries regarding the studied samples please contact [e-mail]".