Genetic polymorphism in untranslated regions of PRKCZ influences mRNA structure, stability and binding sites.

ABSTRACT:

Background

Variations in untranslated regions (UTR) alter regulatory pathways impacting phenotype, disease onset, and course of disease. Protein kinase C Zeta (PRKCZ), a serine-threonine kinase, is implicated in cardiovascular, neurological and oncological disorders. Due to limited research on PRKCZ, this study aimed to investigate the impact of UTR genetic variants' on binding sites for transcription factors and miRNA. RNA secondary structure, eQTLs, and variation tolerance analysis were also part of the study.

Methods

The data related to PRKCZ gene variants was downloaded from the Ensembl genome browser, COSMIC and gnomAD. The RegulomeDB database was used to assess the functional impact of 5' UTR and 3'UTR variants. The analysis of the transcription binding sites (TFBS) wa

SUBMITTER: Mustafa A 

PROVIDER: S-EPMC11401371 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature