Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure
This study integrates oocyte gene expression profiles with parental genomic data to identify transcriptional dysregulations associated with TFF. Key disruptions in gene regulatory networks and TFs binding were inferred, potentially affecting critical processes in oogenesis, fertilization, and early embryonic development. AOA by exogenous calcium administration partially rescued fertilization, highlighting its potential as a therapeutic intervention. Our genomic analyses at the single-oocyte resolution provide new insights into new potential polygenic causes of TFF.
Authors
- Matteo Avella (ORCID: https://orcid.org/0000-0003-0104-3304)
- Johnny Awwad (ORCID: https://orcid.org/0000-0002-9543-042X)
- Mohamed Nadhir Djekidel (ORCID: https://orcid.org/0000-0001-5361-1858)
- Elbay Aliyev (ORCID: https://orcid.org/0000-0002-6469-1854)
- Fadi Choucair (ORCID: https://orcid.org/0000-0003-4355-8269)
- Khalid A. Fakhro (ORCID: https://orcid.org/0000-0002-3150-1276)
- Maria Sousa Esteves
- Shoaib Nawaz (ORCID: https://orcid.org/0000-0003-3141-6693)
- Manar Ata (ORCID: https://orcid.org/0000-0001-7111-5719)
- Lina El Taha (ORCID: https://orcid.org/0000-0003-0867-2330)
- Abbirami Sathappan
- Faiza Mohamed Al-Ali (ORCID: https://orcid.org/0009-0008-0599-5090)
- Oleksandr Soloviov
Institutions
- Qatar Airways (Qatar) (QA)
- Sidra Medical and Research Center (QA)
- Qatar University (QA)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1186/s12967-025-07038-5
- Primary Topic
- Reproductive Biology and Fertility
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sidra Medicine