Characterizing genetic variation in the regulation of the ER stress response through computational and cis-eQTL analyses.

ABSTRACT: Misfolded proteins in the endoplasmic reticulum (ER) elicit the ER stress response, a large transcriptional response driven by 3 well-characterized transcription factors (TFs). This transcriptional response is variable across different genetic backgrounds. One mechanism in which genetic variation can lead to transcriptional variability in the ER stress response is through altered binding and activity of the 3 main TFs: XBP1, ATF6, and ATF4. This work attempts to better understand this mechanism by first creating a computational pipeline to identify potential binding sites throughout the human genome. We utilized GTEx data sets to identify cis-eQTLs that fall within predicted TF binding sites (TFBSs). We also utilized the ClinVar database to compare the number of pathogenic vs benign varian

SUBMITTER: Russell ND 

PROVIDER: S-EPMC10700025 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature