How egg and sperm cells prevent chromosome mistakes that cause birth defects
Regulation of MutL-gamma function in mediating crossing over in mammalian meiosis
This work looks at how proteins control chromosome crossovers during egg and sperm formation to help prevent miscarriages and birth defects.
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-11389235 on NIH RePORTER |
What this research studies
Scientists at Cornell are studying the proteins that guide crossover events during meiosis in mammals to understand how correct chromosome numbers are ensured. They use cell culture, protein interaction experiments, genetic tools, and mouse models to track how MutSγ, MutLγ, CNTD1, and related factors load at specific DNA sites. The team aims to map the molecular steps that pick which double-strand breaks become the final crossovers so chromosomes segregate properly. Although this is lab-based basic research, it targets a key cause of human aneuploidy and related birth defects.
Who could benefit from this research
Good fit: This project does not currently enroll patients, but future related studies may invite people with recurrent pregnancy loss, unexplained infertility, or a child with a chromosomal condition to provide samples or participate.
Not a fit: People seeking immediate treatments for aneuploidy-related conditions should not expect direct or immediate benefit from this basic laboratory research.
Why it matters
Potential benefit: If successful, this could clarify why chromosome-number errors happen and eventually lead to ways to predict, prevent, or treat causes of miscarriage, infertility, and birth defects.
How similar studies have performed: Prior work has shown MutSγ and MutLγ are important for crossover formation and recently linked CNTD1 to this process, but the exact mechanism for selecting final crossover sites is still new and unproven.
Where this research is happening
Ithaca, United States
- Cornell University — Ithaca, United States (Active)
Researchers
- Principal investigator: Cohen, Paula Elaine — Cornell University
- Study coordinator: Cohen, Paula Elaine
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.