An Association Study of DNA Methylation and Gene Expression in Angelman Syndrome: A Bioinformatics Approach.

ABSTRACT: Angelman syndrome (AS) is a neurodevelopmental disorder caused by the loss of function of the E3-ligase UBE3A. Despite multiple studies, AS pathophysiology is still obscure and has mostly been explored in rodent models of the disease. In recent years, a growing body of studies has utilized omics datasets in the attempt to focus research regarding the pathophysiology of AS. Here, for the first time, we utilized a multi-omics approach at the epigenomic level and the transcriptome level, for human-derived neurons. Using publicly available datasets for DNA methylation and gene expression, we found genome regions in proximity to gene promoters and intersecting with gene-body regions that were differentially methylated and differentially expressed in AS. We found that overall, the genome in AS p

SUBMITTER: Panov J 

PROVIDER: S-EPMC9409443 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature