How human DNA enhancers and promoters control gene activity
Functional Architecture and Interplay of Transcription Regulatory Elements of the Human Genome
Researchers are mapping how pieces of human DNA called enhancers and promoters work together to turn genes on and off, which could help people with genetic conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cornell University NIH-funded |
| Lab location | 1 site (Ithaca, United States) |
| Project ID | NIH-11381916 on NIH RePORTER |
What this research studies
This project uses highly sensitive genomic assays to find and map regulatory DNA elements in human cells and to describe their internal layout. The team maps transcription start sites and dissects the sequence motifs that make enhancers and promoters work. They will study how enhancers communicate with different types of promoters, including over long distances in the genome. The approach combines precise biochemical assays and chromosome contact mapping to reveal rules of gene control.
Who could benefit from this research
Good fit: People with genetic disorders suspected to involve dysregulated gene expression, or those willing to donate samples for genomic research, would be the most relevant participants or contributors.
Not a fit: Patients seeking an immediate treatment effect or those with conditions unrelated to gene regulation are unlikely to receive direct clinical benefit from this basic science project.
Why it matters
Potential benefit: If successful, this work could reveal how regulatory DNA goes wrong in disease and point to new targets for diagnosis or future therapies.
How similar studies have performed: Related genomic mapping methods have identified regulatory elements in human cells previously, but this project uses newer high-sensitivity assays to resolve enhancer-promoter interactions with greater precision.
Where this research is happening
Ithaca, United States
- Cornell University — Ithaca, United States (Active)
Researchers
- Principal investigator: Lis, John T — Cornell University
- Study coordinator: Lis, John T
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.