Xiaoyun Dou, M. D. , Ting Guo, M. D. , Ph. D. , Guangyu Li, M. S

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Minichromosome maintenance complex component 8 mutations cause primary ovarian insufficiency Xiaoyun Dou, M.D., Ting Guo, M.D., Ph.D., Guangyu Li, M.S., LiGuang Zhou, M.D., Ph.D., Yingying Qin, M.D., Ph.D., Zi-Jiang Chen, M.D., Ph.D. Fertility and Sterility Volume 106, Issue 6, Pages 1485-1489.e2 (November 2016) DOI: 10.1016/j.fertnstert.2016.08.018 Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Novel mutations identified in the minichromosome maintenance complex component 8 (MCM8) gene in patients with primary ovarian insufficiency (POI). (A) Schematic diagram of the MCM8 gene. The MCM8 has two central functional domains: amino (N)-terminal DNA binding domain (blue box) and AAA+ core domain (green box). The red arrows refer to the location of the two heterozygous mutations identified in patients with POI, followed with the Sanger sequence diagram (B). (C) Alignment of the coding strand of MCM8 in 14 eutherian mammals from Ensembl database shows conservation of amino acid 317 and 601 in mammals. MT = mutant MCM8; WT = wild type. Fertility and Sterility 2016 106, 1485-1489.e2DOI: (10.1016/j.fertnstert.2016.08.018) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Mutant p. H317H and p. H601R showed higher sensitivity for mitomycinC (MMC) damage and p. H317H presented with impaired DNA repair function. The human cervix carcinoma cell line (HeLa) cells overexpressing wild type (WT) or mutant MCM8 (MT) were exposed to MMC for 6 hours, and then a phosphorylated histone variant H2AX (γH2AX) was raised in both wild-type and mutant cells, indicating that double-stranded breaks were induced. More of γH2AX appeared in cells overexpressing (A) p. H317H and (B) p. H601R compared with wild-type MCM8. After recovery for 2 hours, γH2AX disappeared from wild-type and (B) mutant p. H601R, indicating that MMC-induced DNA damage had been repaired completely. However, in cells overexpressing (A) p. H317L, γH2AX still existed after recovery, which confirmed its impaired function in DNA repairing. Fertility and Sterility 2016 106, 1485-1489.e2DOI: (10.1016/j.fertnstert.2016.08.018) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions