How an SF3B1 mutation in MDS changes RNA processing
Altered RNA fates due to an MDS driver mutation in SF3B1
Researchers are looking at how a common SF3B1 mutation changes RNA handling in cells from people with myelodysplastic syndromes (MDS).
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-11251317 on NIH RePORTER |
What this research studies
From a patient's perspective, the team uses genetically matched cells that carry the SF3B1 K700E mutation to track how RNA is made, processed, and degraded. They measure RNA polymerase II speed, look for transcription-replication conflicts and abnormal R-loop structures, and examine changes in histone marks and chromatin organization. The investigators also use short hairpin RNA screens to find genes that modify these effects. Lab experiments will be performed at Yale and may be compared with patient-derived samples to confirm relevance.
Who could benefit from this research
Good fit: People with MDS who are known to carry SF3B1 mutations, especially the K700E change, would be most directly relevant.
Not a fit: Patients without SF3B1 mutations or with unrelated blood disorders are less likely to see direct benefit from this research.
Why it matters
Potential benefit: If successful, this work could explain how SF3B1 mutations drive MDS and identify new targets for therapies.
How similar studies have performed: Previous work documented modest splicing changes from SF3B1 mutations, and this project takes a newer approach by focusing on transcription kinetics, R-loops, and chromatin that is less explored.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Pillai, Manoj M. — Yale University
- Study coordinator: Pillai, Manoj M.
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.