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

Abstract excerpt

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. We analyzed ∼10,000 exomes and ∼27,000 transcriptomes from human tumors and healthy tissues to quantify individual-level NMD efficiency, and assess its variability betwe...

Topics

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• Cell Transformation, Neoplastic
• Combined Modality Therapy
• Disease Management
• Disease Susceptibility
• Molecular Targeted Therapy
• Nonsense Mediated mRNA Decay
• Stress, Physiological
• Tumor Microenvironment

Identifiers and source

Literature Corpus work

6ffa0c43-4109-51b7-b4f8-6b358acb1b97

DOI

10.1101/2024.02.29.582778