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Article Abstract
Background: Premature ovarian insufficiency (POI) is affecting approximately 1% of females and increasingly contributing to female infertility. The etiology of POI is heterogeneous. CHEK1, a critical component of the DNA damage and replication stress response, has recently been linked to female reproductive biology.
Results: We identified a CHEK1 variant c.77C > G; p.A26G in a POI patient through whole-exome sequencing. Protein structure prediction and pathogenicity analysis suggested that the CHEK1 A26G variant may affect protein stability. RNA sequencing results of 293FT cells overexpressing wild-type and A26G CHEK1 revealed altered expression and alternative splicing of genes involved in metabolism and inflammation.
Conclusion: CHEK1 may be involved in ovarian aging and the A26G variant may increase susceptibility to POI.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178055 | PMC |
| http://dx.doi.org/10.1186/s40246-025-00774-1 | DOI Listing |
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