Epigenetic Regulation of Alternative mRNA Splicing in Dilated Cardiomyopathy.

ABSTRACT: In recent years, the genetic architecture of dilated cardiomyopathy (DCM) has been more thoroughly elucidated. However, there is still insufficient knowledge on the modifiers and regulatory principles that lead to the failure of myocardial function. The current study investigates the association of epigenome-wide DNA methylation and alternative splicing, both of which are important regulatory principles in DCM. We analyzed screening and replication cohorts of cases and controls and identified distinct transcriptomic patterns in the myocardium that differ significantly, and we identified a strong association of intronic DNA methylation and flanking exons usage (p < 2 × 10-16). By combining differential exon usage (DEU) and differential methylation regions (DMR), we found a significant chang

SUBMITTER: Gi WT 

PROVIDER: S-EPMC7291244 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature