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De novo Identification of Actively Translated Open Reading Frames with Ribosome Profiling Data
Published on: February 18, 2022
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Translational Regulation by Upstream Open Reading Frames and Human Diseases
Joana Silva1,2, Rafael Fernandes1,2, Luísa Romão3,4
1Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, Lisboa, Portugal.
Advances in Experimental Medicine and Biology
|July 26, 2019
Summary
Short upstream open reading frames (uORFs) regulate gene expression and can cause genetic diseases when disrupted. Understanding uORF mechanisms aids in developing new diagnostic and therapeutic tools.
Area of Science:
- Molecular Biology
- Genetics
- Translational Regulation
Background:
- Short upstream open reading frames (uORFs) are regulatory elements in mRNA 5'-leader sequences.
- uORFs, including non-AUG initiated ones, are widespread and influence downstream main open reading frame (mORF) expression.
- Dysregulation of uORFs can lead to genetic diseases.
Purpose of the Study:
- To review mechanisms of AUG- and non-AUG uORF-mediated translational regulation.
- To highlight examples of uORF deregulation in human genetic diseases, particularly cancer.
- To emphasize the diagnostic and therapeutic potential of targeting uORF variants.
Main Methods:
- Review of recent genome-wide ribosome profiling studies.
- Analysis of mechanisms governing uORF translation initiation and termination.
- Case studies of uORF deregulation in human diseases.
Main Results:
- uORFs regulate mORF expression via mRNA decay or translational control.
- Non-AUG uORFs are common and contribute to translational regulation.
- uORF variants are implicated in diseases like cancer.
Conclusions:
- Understanding uORF regulatory roles is crucial for disease pathobiology.
- Screening 5'-leader sequences for uORF variants can identify disease-related mutations.
- This knowledge can inform the development of novel diagnostic and therapeutic strategies.
Keywords:
Genetic diseaseNon-AUG upstream open reading frame (uORF)StressTranslational regulationTranslatomeuORFuORF-encoded peptideMore Related Videos
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