How changes in gene start/end regions (UTRs) affect protein production
High throughput functional annotation of the impact of human UTR sequence variation on gene function and protein output
This project is developing lab tests and computer models to show how tiny genetic changes in the 5' and 3' untranslated regions of genes change protein output, which may help people with unexplained genetic test results.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11267974 on NIH RePORTER |
What this research studies
The team will first catalog genetic variants in the 5' and 3' untranslated regions (UTRs) across the human genome and look for links to conservation and disease. They will build a high-throughput lab assay (NaP-TRAP-seq) to measure how each variant changes mRNA translation and protein output in different cell types. Experimental data will be combined with computational models to predict which variants alter protein production and to create a constraint model relating conservation to functional effect. The goal is to produce information that can help interpret variants found on clinical genetic tests.
Who could benefit from this research
Good fit: People with genetic testing results showing variants in the 5' or 3' UTR regions or families seeking explanation for unexplained genetic conditions.
Not a fit: Patients whose conditions are unrelated to UTR sequence changes, or who need immediate treatment rather than diagnostic insight, are unlikely to benefit directly.
Why it matters
Potential benefit: This work could make it easier to interpret non-coding genetic test results and identify variants that cause or contribute to disease.
How similar studies have performed: Previous reports show individual UTR changes can affect protein levels, but a comprehensive high-throughput map and accurate predictive models are largely novel and not yet widely validated.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Giraldez, Antonio J — Yale University
- Study coordinator: Giraldez, Antonio J
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.