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Article

Disrupting upstream translation in mRNAs is associated with human disease.

Nature communications - 9 Mar 2021

Lee David S M, Park Joseph, Kromer Andrew, Baras Aris, Rader Daniel J, Ritchie Marylyn D, Ghanem Louis R, Barash Yoseph

Abstract excerpt

Ribosome-profiling has uncovered pervasive translation in non-canonical open reading frames, however the biological significance of this phenomenon remains unclear. Using genetic variation from 71,702 human genomes, we assess patterns of selection in translated upstream open reading frames (uORFs) in 5'UTRs. We show that uORF variants introducing new stop codons, or strengthening existing stop codons, are under...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33750777
DOI: 10.1038/s41467-021-21812-1
PMCID: PMC7943595

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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