1. Главная
  2. Ресурсы
  3. Библиотечный поиск
Biallelic mutationsin CDC20 cause femaleinfertilitycharacterized byabnormalities inoocyte maturation andearly embryonicdevelopment Lin ZhaoSongguo XueZhongyuan Yao2020 год

Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development
статья из журнала

Полный текстСтраница публикацииПубликация в OpenAlex
Аннотация: However, the genetic basis for majority of patients resulting from abnormalities in these phenotypes remains to be elucidated.The cell division cycle 20 (CDC20, HGNC:1723) is the coactivator of anaphase-promoting complex/cyclosome (APC/ C) during mitosis, and plays a role in maintaining the genome by regulating spindle assembly checkpoints (Musacchio and Hardwick, 2002).In oocytes, the activation of APC/C by CDC20 is a key step in homologue disjunction and in transition from meiosis I to meiosis II (Jones, 2011).CDC20 is therefore an essential component of the mammalian cell cycle mechanism regulating both miotic and meiotic exit.Although CDC20 is an extensively studied gene, until now, no solid evidence has been provided to establish the causal relationship between CDC20 mutations and human diseases.The only report was an association study relating CDC20 mutations with idiopathic azoospermia (Li et al., 2017).Here, we identified biallelic CDC20 mutations in five infertile individuals with oocyte maturation arrest, fertilization failure, and early embryonic arrest.We investigated the effects of the corresponding mutations in cell lines and mouse oocytes and explored a potential therapeutic treatment by direct CDC20 cRNA injection.The probands in families 1 and 2 had normal menstrual cycles and had been diagnosed as primary infertility with unknown reasons for several years (Table S1).Both of the probands came from consanguineous families (Fig. 1A).The probands in family 1 had undergone two failed in vitro fertilization (IVF) attempts and one failed intracytoplasmic sperm injection (ICSI).In her ICSI cycle, eleven oocytes
Год издания: 2020
Авторы: Lin Zhao, Songguo Xue, Zhongyuan Yao, Juanzi Shi, Biaobang Chen, Ling Wu, Lihua Sun, Yao Xu, Zheng Yan, Bin Li, Xiaoyan Mao, Jing Fu, Zhihua Zhang, Jian Mu, Wenjing Wang, Jing Du, Shuai Liu, Jie Dong, Weijie Wang, Qiaoli Li, Lin He, Jin Li, Xiaozhen Liang, Yanping Kuang, Xiaoxi Sun, Lei Wang, Qing Sang
Издательство: Springer Science+Business Media
Источник: Protein & Cell
Ключевые слова: Reproductive Biology and Fertility, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Microtubule and mitosis dynamics
Другие ссылки: Protein & Cell (PDF)
Protein & Cell (HTML)
DOAJ (DOAJ: Directory of Open Access Journals) (HTML)
PubMed Central (HTML)