Homozygous variant in JARID2 causes female infertility characterized by compromised blastulation efficiency
These findings establish JARID2 as a maternal-effect gene governing early embryogenesis through epigenetic and ERK1/2-mediated regulatory axes, expanding the genetic diagnostic framework for ART failures and providing mechanistic insights into previously unexplained developmental defects.
Authors
- Wei Zheng (ORCID: https://orcid.org/0000-0002-1397-4176)
- Pingyuan Xie (ORCID: https://orcid.org/0000-0002-0865-9526)
- Jing Dai (ORCID: https://orcid.org/0000-0002-1889-6621)
- Fei Gong (ORCID: https://orcid.org/0000-0002-7474-0680)
- Jiaqi Sun (ORCID: https://orcid.org/0000-0002-6708-1883)
- Huiling Hu
- Fei Meng (ORCID: https://orcid.org/0009-0005-7016-913X)
- Ge Lin
Institutions
- Central South University (CN)
- Hunan Normal University (CN)
- Reproductive & Genetic Hospital CITIC-Xiangya (CN)
- National Engineering Research Center of Human Stem Cells (CN)
Publication Details
- Journal
- Journal of Ovarian Research
- Published
- 2025-08-30
- DOI
- https://doi.org/10.1186/s13048-025-01783-3
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Hunan Province
- National Key Research and Development Program of China