Article

Disrupting upstream translation in mRNAs leads to loss-of-function associated with human disease

2020-09-12

Abstract excerpt

<h4>ABSTRACT</h4> Ribosome-profiling has uncovered pervasive translation in 5’UTRs, 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 strong neg...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 8a96aa76-625f-59b1-8683-824d940c461c
DOI: 10.1101/2020.09.09.287912

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Disrupting upstream translation in mRNAs leads to loss-of-function associated with human diseaseDOI 10.1101/2020.09.09.287912Read

Disrupting upstream translation in mRNAs is associated with human disease.Semantic proximity Read

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.Semantic proximity Read

Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individualsSemantic proximity Read

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.Semantic proximity Read

A comprehensive catalog of predicted functional upstream open reading frames in humans.Semantic proximity Read

Sequence-intrinsic barriers define a class of translation-restricted uORFs in the human genomeSemantic proximity Read

Translational plasticity facilitates the accumulation of nonsense genetic variants in the human populationSemantic proximity Read

utR.annotation: a tool for annotating genomic variants that could influence post-transcriptional regulationSemantic proximity Read

Translation of numerous upstream open reading frames rather than their products is essential for proliferation of human cells of distinct originSemantic proximity Read

Gene expression regulation by upstream open reading frames and human disease.Semantic proximity Read

Genome-wide detection of human 5' UTR variants that impact protein translation.Semantic proximity Read

Analysis of human upstream open reading frames and impact on gene expression.Semantic proximity Read