MCM8 variants in two patients with primary ovarian insufficiency: clinical findings and in vitro defective DNA repair revealed by an MCM8 double-mutant construct
Fei Wang, Shaolian Zang, Pin Li, Xiaoqin Yin · 2026
Read MCM8 variants in two patients with primary ovarian insufficiency: clinical findings and in vitro defective DNA repair revealed by an MCM8 double-mutant construct by Fei Wang, Shaolian Zang, Pin Li, Xiaoqin Yin (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13318747.txt.
Description
Fei Wang and colleagues report a 2026 study of MCM8 gene variants in primary ovarian insufficiency starting in childhood. Two patients carried paired variants, p.C242R and p.S445*, in this DNA repair gene. The team had earlier described the family. Now they test what the double change does inside cells.
HeLa cells were made to produce normal or double-mutant MCM8. Patient ovarian tissue showed less MCM8 and more cell death. Mutant cells cleared DNA damage slowly, with damage marks lingering. Repair partners DMC1 and RAD51 were recruited abnormally. Cells piled up in S-phase and died more often. Protein partner patterns and gene activity also shifted, touching ovary survival pathways. The findings suggest how MCM8 faults may drive early ovarian failure.
Catalog record
| CREATOR | Fei Wang, Shaolian Zang, Pin Li, Xiaoqin Yin |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 46829 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |