How large genetic changes form in eggs and sperm
Germline Mutagenesis at Recombination Hotspots
Looking at how DNA breaks during egg and sperm formation lead to big genetic changes that can affect inherited health.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11270641 on NIH RePORTER |
What this research studies
From the patient's point of view, researchers are tracing how mistakes that happen when eggs and sperm are made can create large DNA changes called structural variants. They will use lab models (including findings from mice), DNA sequencing, and computational tools to map where and how these changes form. The team is focusing on the ATM protein, which helps control DNA break repair during meiosis, to see when repair goes wrong and creates deletions or duplications. Their approach combines lab experiments, genome mapping, and computer analysis to find the mechanisms that produce rare but important inherited changes.
Who could benefit from this research
Good fit: People or families affected by inherited disorders linked to ATM mutations or those with unexplained de novo structural genetic changes would be most relevant.
Not a fit: Patients seeking immediate clinical treatments are unlikely to benefit directly because this is basic research into how genetic changes arise.
Why it matters
Potential benefit: If successful, this work could clarify causes of some inherited genetic disorders and improve genetic counseling and future prevention strategies.
How similar studies have performed: Previous lab and mouse studies have shown ATM's role in controlling DNA breaks and have observed de novo structural variants in model systems, but applying these findings to human genetics is still an emerging area.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Lukaszewicz, Agnieszka — University of Michigan at Ann Arbor
- Study coordinator: Lukaszewicz, Agnieszka
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.