CCDC174 deficiency impaired human fertility by affecting the alternative splicing of maternal mRNAs - PubMed
3 hours ago
- #Female Infertility
- #Oocyte Competence
- #Alternative Splicing
- CCDC174 deficiency impairs human fertility by disrupting alternative splicing of maternal mRNAs in oocytes.
- Biallelic variants in CCDC174 cause oocyte maturation arrest and female infertility in both humans and mice.
- CCDC174 interacts with the PRP19/CDC5L splicing complex, and its loss leads to aberrant expression of complex members and disrupted mRNA homeostasis.