OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development.

ABSTRACT:

Background

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 the human genome. Furthermore, it plays an essential role in muscle development and function. Mutations in OBSCN are associated with several hypertrophic cardiomyopathies and muscular disorders. OBSCN undergoes extensive and complex alternative splicing, which is the main reason that its splicing regulation associated with skeletal and cardiac muscle development has not previously been thoroughly studied.

Methods

We analyzed RNA-Seq data from skeletal and cardiac muscles extracted from 44 postnatal individuals and six fetuses. We applied the intron/exon level splicing analysis software IntEREst to study the splicing of

SUBMITTER: Oghabian A 

PROVIDER: S-EPMC11871629 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature