A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint.

ABSTRACT: Despite its importance for regulating gene expression, nonsense-mediated mRNA decay (NMD) remains poorly understood. Here, we extend the findings of a previous landmark study that proposed several factors associated with NMD efficiency using matched genome and transcriptome data from The Cancer Genome Atlas Program (TCGA) by incorporating additional data including Genotype-Tissue Expression (GTEx), gnomAD, and metrics for mutational constraints. Factors affecting NMD efficiency are analyzed using an allele-specific expression (ASE)-based measure to reduce noise caused by random variations. Additionally, by combining our data with the updated allele frequency database of gnomAD, we demonstrate the spectrum of NMD efficiency according to the degree of gene-level mutational constraints (degre

SUBMITTER: Kim YG 

PROVIDER: S-EPMC11544006 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature