At the American Society of Human Genetics (ASHG) Annual Meeting 2025, Yale and Stanford researchers unveiled the Nascent Peptide-Translating Ribosome Affinity Purification (NaP-TRAP) assay, which quantifies the translational effects of over one million 5′ untranslated region (UTR) variants across approximately 17,000 genes. This innovative method addresses the significant gap in understanding how non-coding RNA variations influence human disease, particularly given that nearly 95% of disease-associated mutations are found in non-coding regions.
The NaP-TRAP technique allows for sensitive measurement of protein output by capturing mRNAs linked to actively translating ribosomes. By integrating machine learning, the researchers identified essential regulatory features in the 5’UTR that modulate protein expression, including the impact of mutations on sequence motifs and novel structural elements. These insights are crucial for mapping the translational consequences of non-coding variants in disease-related genes.
Furthermore, the study revealed “fail-safe” mechanisms within the 5’UTR that help buffer against mutations, particularly in clinical contexts. The findings underscore the relevance of 5’UTR variants in cancer biology, as many impactful variants are cataloged as somatic mutations in cancer databases. Looking ahead, the researchers aim to develop predictive models for the effects of 5’UTR variations on protein expression, highlighting the importance of non-coding regions in the molecular interpretation of human diseases.
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