Mapping genetic variants for nonsense-mediated mRNA decay regulation across human tissues.

ABSTRACT:

Background

Nonsense-mediated mRNA decay (NMD) was originally conceived as an mRNA surveillance mechanism to prevent the production of potentially deleterious truncated proteins. Research also shows NMD is an important post-transcriptional gene regulation mechanism selectively targeting many non-aberrant mRNAs. However, how natural genetic variants affect NMD and modulate gene expression remains elusive.

Results

Here we elucidate NMD regulation of individual genes across human tissues through genetical genomics. Genetic variants corresponding to NMD regulation are identified based on GTEx data through unique and robust transcript expression modeling. We identify genetic variants that influence the percentage of NMD-targeted transcripts (pNMD-QTLs), as well as genetic variants

SUBMITTER: Sun B 

PROVIDER: S-EPMC10337212 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature