Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality
Oocyte maturation arrest (OMA) may occur at different stages, including the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII). A total maturation arrest of human oocytes is rarely observed during in vitro fertilization (IVF). We have identified a case of infertile female for whom all o...
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Taylor & Francis Group
2025-12-01
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| Series: | Gynecological Endocrinology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/09513590.2025.2451672 |
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| author | Guangzhong Jiao Jinhao Xing Zhaoli Du Hongchu Bao Xiaoyan Liu |
| author_facet | Guangzhong Jiao Jinhao Xing Zhaoli Du Hongchu Bao Xiaoyan Liu |
| author_sort | Guangzhong Jiao |
| collection | DOAJ |
| description | Oocyte maturation arrest (OMA) may occur at different stages, including the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII). A total maturation arrest of human oocytes is rarely observed during in vitro fertilization (IVF). We have identified a case of infertile female for whom all oocytes fail to mature and are arrested at MI. Whole-exome sequencing revealed a compound heterozygous mutant (c.533C > A: p.Val458Ala; c.1373T > C: p.Ala178Glu) in cell division cycle 20 (CDC20). Through rigorous validation using Sanger sequencing technology, both of her parents have been confirmed as genetic carriers of these specific mutations. Based on the three-dimensional (3D) structures of the CDC20 protein used to assess the effect of the mutant, the mutant causes a change in hydrogen bond in the protein structure, which may affect the stability of the mutant protein. Previous studies have firmly established CDC20 as a pivotal member of the cell cycle regulation family, playing an indispensable role in the transition from metaphase to anaphase during cell division. Our findings not only broaden the current understanding of CDC20 gene mutations but also profoundly illuminate how these mutations serve as potential genetic mechanisms underlying the arrest of oocyte maturation. |
| format | Article |
| id | doaj-art-0202a1d13e7b4bbaa1b5ff7897f50687 |
| institution | Kabale University |
| issn | 0951-3590 1473-0766 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Gynecological Endocrinology |
| spelling | doaj-art-0202a1d13e7b4bbaa1b5ff7897f506872025-01-25T12:44:42ZengTaylor & Francis GroupGynecological Endocrinology0951-35901473-07662025-12-0141110.1080/09513590.2025.2451672Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormalityGuangzhong Jiao0Jinhao Xing1Zhaoli Du2Hongchu Bao3Xiaoyan Liu4Department of Reproductive Medicine, the Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, ChinaDepartment of Reproductive Medicine, the Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, ChinaYinfeng Gene Technology co., Ltd., Jinan, Shandong, ChinaDepartment of Reproductive Medicine, the Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, ChinaDepartment of Reproductive Medicine, the Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, ChinaOocyte maturation arrest (OMA) may occur at different stages, including the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII). A total maturation arrest of human oocytes is rarely observed during in vitro fertilization (IVF). We have identified a case of infertile female for whom all oocytes fail to mature and are arrested at MI. Whole-exome sequencing revealed a compound heterozygous mutant (c.533C > A: p.Val458Ala; c.1373T > C: p.Ala178Glu) in cell division cycle 20 (CDC20). Through rigorous validation using Sanger sequencing technology, both of her parents have been confirmed as genetic carriers of these specific mutations. Based on the three-dimensional (3D) structures of the CDC20 protein used to assess the effect of the mutant, the mutant causes a change in hydrogen bond in the protein structure, which may affect the stability of the mutant protein. Previous studies have firmly established CDC20 as a pivotal member of the cell cycle regulation family, playing an indispensable role in the transition from metaphase to anaphase during cell division. Our findings not only broaden the current understanding of CDC20 gene mutations but also profoundly illuminate how these mutations serve as potential genetic mechanisms underlying the arrest of oocyte maturation.https://www.tandfonline.com/doi/10.1080/09513590.2025.2451672Female infertilitymutationIVFoocyte maturation arrestCDC20 |
| spellingShingle | Guangzhong Jiao Jinhao Xing Zhaoli Du Hongchu Bao Xiaoyan Liu Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality Gynecological Endocrinology Female infertility mutation IVF oocyte maturation arrest CDC20 |
| title | Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality |
| title_full | Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality |
| title_fullStr | Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality |
| title_full_unstemmed | Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality |
| title_short | Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality |
| title_sort | biallelic mutations in cdc20 cause female infertility due to oocyte maturation abnormality |
| topic | Female infertility mutation IVF oocyte maturation arrest CDC20 |
| url | https://www.tandfonline.com/doi/10.1080/09513590.2025.2451672 |
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