How DMRT genes control male and female gonad development
Regulation of sex-specific development by transcription factors
This project aims to understand how a family of genes called DMRTs guide gonads to develop as testes or ovaries, which matters for people with some infertility or differences of sex development.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11300207 on NIH RePORTER |
What this research studies
Researchers use lab and genomic methods to map what DMRT transcription factors do during gonad development across animal models, including fruit flies and other species. They apply techniques such as ATAC-seq and developmental biology approaches to find the genes DMRTs turn on or off and how those changes shape germline and somatic stem cells in testes and ovaries. Although the experiments are performed in animals and cells, the work is connected to human health because DMRT1 mutations cause XY gonadal dysgenesis and infertility in people. The project aims to reveal molecular steps that could explain some human differences of sex development and guide future diagnostics or treatments.
Who could benefit from this research
Good fit: People with XY gonadal dysgenesis, unexplained infertility, or suspected DMRT1-related differences of sex development would be the most directly relevant group, although this grant is focused on laboratory research rather than enrolling patients.
Not a fit: Patients seeking immediate clinical treatments or those whose reproductive issues arise from unrelated causes are unlikely to receive direct benefit from this basic science project.
Why it matters
Potential benefit: If successful, this research could clarify genetic causes of some differences of sex development and infertility and point to new diagnostic markers or targets for future therapies.
How similar studies have performed: Previous studies have shown that DMRT genes are conserved regulators of gonad development and that DMRT1 mutations can cause human gonadal dysgenesis, but identifying their direct genomic targets and exact mechanisms remains an active and novel area of research.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Van Doren, Mark B — Johns Hopkins University
- Study coordinator: Van Doren, Mark B
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.