Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability.

ABSTRACT:

Background

Decapping of mRNA is an important step in the regulation of mRNA turnover and therefore of gene expression, which is a key process controlling development and homeostasis of all organisms. It has been shown that EDC3 plays a role in mRNA decapping, however its function is not well understood. Previously, we have associated a homozygous variant in EDC3 with autosomal recessive intellectual disability. Here, we investigate the functional role of EDC3.

Methods

We performed transcriptome analyses in patients' samples. In addition, we established an EDC3 loss-of-function model using siRNA-based knockdown in the human neuroblastoma cell line SKNBE and carried out RNA sequencing. Integrative bioinformatics analyses were performed to identify EDC3-dependent candidate gene

SUBMITTER: Scheller U 

PROVIDER: S-EPMC5914069 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature