ArticleHuman genetics2015
Analysis of human upstream open reading frames and impact on gene expression.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 52 citations in OpenAlex.
- High expression of the underexplored SLC4A11 protein-coding transcript is specific to the corneal endothelium.Scientific reports · 2026Article
- CRISPR-Cas9-mediated uATG introduction in the 5'UTR of the Uox gene for hyperuricemia mouse models: implications for gout and metabolic disorders.Science China. Life sciences · 2026Article
- Regulatory Mechanism ofBiomolecules · 2025Article
- Ribosome Profiling and RNA Sequencing Reveal Translation and Transcription Regulation under Acute Heat Stress in Rainbow Trout (International journal of molecular sciences · 2024Article
- Upstream open reading frames: new players in the landscape of cancer gene regulation.NAR cancer · 2024Review
- Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.Genome biology · 2024Article
- The Functional Meaning of 5'UTR in Protein-Coding Genes.International journal of molecular sciences · 2023Review
- Discovering microproteins: making the most of ribosome profiling data.RNA biology · 2023Review
- Translational buffering by ribosome stalling in upstream open reading frames.PLoS genetics · 2022Article
- Upstream open reading frames control PLK4 translation and centriole duplication in primordial germ cells.Genes & development · 2022Article
- Noise reduction by upstream open reading frames.Nature plants · 2022Article
- Ribosomal leaky scanning through a translated uORF requires eIF4G2.Nucleic acids research · 2022Article
- Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.Frontiers in cardiovascular medicine · 2022Review
- Translation ofBiomedicines · 2021Article
- Human IRES Atlas: an integrative platform for studying IRES-driven translational regulation in humans.Database : the journal of biological databases and curation · 2021Article
- Determinants of genome-wide distribution and evolution of uORFs in eukaryotes.Nature communications · 2021Article
- Small Open Reading Frames, How to Find Them and Determine Their Function.Frontiers in genetics · 2021Review
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Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The upstream open reading frame (uORF) is a post-transcriptional regulatory element in the 5' untranslated region (5'UTR), which modulates the translation levels of main open reading frame (mORF). Earlier studies showed that disturbed uORF-mediated translation control can result in drastic changes in translation levels of mORF, leading to genetic disorders. To date, there has been no systematic investigation into the relationship between variations in patients and uORF status. Here, taking the advantage of several datasets, including gene ontology (GO) annotations and sequence feature analysis, we have examined uORF impacts in human transcripts. GO annotations indicate that uORF-containing genes are enriched in certain features such as oncogenes and transcription factors. Sequence feature analysis reveals that uORF is a factor for determination of the translation initiation site (TIS) in human transcripts. We show that genes with uORFs have lower protein expression levels than genes without uORFs in multiple human tissues. Moreover, by examining three disease variation databases, we identified uORF-altering mutations from a total of 3,740,225 variations, which are highly suspected to be associated with changed levels of gene expression. For an experimental validation, we found four mutations with significant effects on protein expression but with only modest changes in transcription levels. These findings will provide researchers on related diseases with new insights into the importance of known mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.