Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individuals.

ABSTRACT:

Background

Nonsense-mediated mRNA decay (NMD) is a quality-control pathway that degrades mRNA bearing premature termination codons (PTCs) resulting from mutation or mis-splicing, and that additionally participates in gene regulation of unmutated transcripts. While NMD activity is known to differ between examples of PTCs, it is less well studied if human tissues differ in NMD activity, or if individuals differ.

Results

We analyzed exomes and matched transcriptomes from Human tumors and healthy tissues to quantify individual-level NMD efficiency, and assess its variability between tissues, tumors, and individuals. This was done by monitoring mRNA levels of endogenous NMD target transcripts, and additionally supported by allele-specific expression of germline PTCs. Nervous syst

SUBMITTER: Palou-Marquez G 

PROVIDER: S-EPMC12477815 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature