Article
Genetics & Heredity
Corinne Loeuillet, Magali Dhellemmes, Caroline Cazin, Zine-Eddine Kherraf, Selima Fourati Ben Mustapha, Raoudha Zouari, Nicolas Thierry-Mieg, Christophe Arnoult, Pierre F. Ray
Summary: Oocyte maturation defect (OMD) is a common cause of female factor infertility, often caused by ovulatory disorders. Several genes including PATL2, TUBB8, WEE2, and ZP1 have been associated with OMD. This study identified a new frequent ZP1 variant and found degeneration and absence of oocytes in patients with ZP1 mutations.
Article
Obstetrics & Gynecology
Ping Yang, Tailai Chen, Yuqing Liu, Zhenzhen Hou, Keliang Wu, Yongzhi Cao, Jiangtao Zhang, Zhao Wang, Han Zhao
Summary: Novel variants of ZP genes were identified in over half of the cohort with GEFS and oocyte degeneration, causing intracellular protein sequestration and failure to assemble ZP filaments, resulting in EFS and female infertility.
FERTILITY AND STERILITY
(2021)
Article
Genetics & Heredity
Mingzhu Huo, Yile Zhang, Senlin Shi, Hao Shi, Yidong Liu, Lingyun Zhang, Yanchi Wang, Wenbin Niu
Summary: This study examined nine patients with oocyte maturation arrest and identified nine pathogenic variants in five genes, including three novel variants. These findings expand the understanding of the gene variant spectrum and provide insights for genetic diagnosis and prediction of oocyte maturation arrest.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Xiaopei Zhou, Zhenxing Liu, Weimin Jia, Meiqi Hou, Xianqin Zhang
Summary: This study investigates the mechanisms underlying the effects of Actl7a gene knockout on sperm acrosome formation, male infertility, and sperm-zona pellucida binding ability during fertilization. The findings suggest that Actl7a deficiency leads to malformed sperm acrosomes, male infertility, and impaired sperm-ZP binding ability. Furthermore, abnormal localization and expression of the PLCZ1 protein in misshapen sperm are identified, resulting in reduced calcium oscillations in oocytes.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Obstetrics & Gynecology
Liwei Sun, Keya Tong, Weiwei Liu, Yin Tian, Dongyun Liu, Guoning Huang, Jingyu Li
Summary: Whole-exome sequencing was performed in probands with empty follicle syndrome (EFS) and abnormal zona pellucida (ZP), revealing a homozygous nonsense variant in ZP1 associated with EFS, a homozygous frameshift variant in ZP2 triggering protein degradation, and a heterozygous missense variant in ZP3 linked to ZP morphological abnormalities. These findings expand the mutational spectrum of ZP1, ZP2, and ZP3, and provide new evidence for genetic diagnosis of female infertility.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Reproductive Biology
Angus D. Macaulay, Chyna S. Ortman, Kevin R. J. Moore, Jay M. Baltz
Summary: The detachment of the fully grown mammalian oocyte from the zona pellucida is mediated by a metallopeptidase, which cleaves the transmembrane ZP proteins that attach the oocyte to the zona pellucida. Inhibitors targeting the M10 and M12 families of metallopeptidases prevent detachment.
BIOLOGY OF REPRODUCTION
(2022)
Article
Chemistry, Analytical
Yue Du, Yizhe Chen, Shuai Zhang, Dai Cheng, Yaowei Liu, Qili Zhao, Mingzhu Sun, Maosheng Cui, Xin Zhao
Summary: This study developed a high-fidelity finite element model for describing the viscoelastic responses of oocytes under loading. By analyzing and characterizing the subcellular components of oocytes, the model accurately predicted the deformation of oocytes under different loading conditions. This model has important implications for further investigating the characteristics and behavior of oocytes.
Article
Pharmacology & Pharmacy
Sujin Lee, Hye Jin Kim, Ji-In Park, Hui Bang Cho, Ji Sun Park, Keun-Hong Park
Summary: The study found differences in penetration and delivery of fluorescent probes into oocytes, depending on their physiochemical properties including hydrophobicity, surfactant activity, and electrical charge. Additionally, some fluorescent probes may disrupt oocyte development. The results suggest that drug delivery efficiency in oocytes with high physical barriers can be estimated by considering the properties of the drug, and a carrier with similar properties to a fluorescent probe can be efficiently delivered into oocytes.
INTERNATIONAL JOURNAL OF PHARMACEUTICS
(2021)
Article
Cell Biology
Ma Jose Izquierdo-Rico, Carla Moros-Nicolas, Miriam Perez-Crespo, Ricardo Laguna-Barraza, Alfonso Gutierrez-Adan, Frederic Veyrunes, Jose Ballesta, Vincent Laudet, Pascale Chevret, Manuel Aviles
Summary: The study reveals that mice are the only eutherian species with a ZP formed of three glycoproteins, while others have four. The pseudogenization of Zp4 is restricted to the Mus subgenus, diverging around 6 million years ago. Experimental results show that a ZP formed of four glycoproteins is not a barrier for sperm of species with a ZP formed of three glycoproteins.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Obstetrics & Gynecology
Meiqi Hou, Lixia Zhu, Jinghang Jiang, Zhenxing Liu, Zhou Li, Weimin Jia, Juan Hu, Xiaopei Zhou, Dazhi Zhang, Yalin Luo, Xuejie Peng, Qingsong Xi, Lei Jin, Xianqin Zhang
Summary: This study identified two novel mutations in the ZP2 gene associated with abnormal ZP and female infertility, and demonstrated their impact on protein expression and function through cell experiments and protein analysis.
REPRODUCTIVE SCIENCES
(2022)
Article
Reproductive Biology
Ming-Hua Zeng, Yan Wang, Hua-Lin Huang, Ru-Ping Quan, Jun-Ting Yang, Dan Guo, Ying Sun, Chao Lv, Tian-Ying Li, Le Wang, Hang-Jin Tan, Pan-Pan Long, Hong-Wen Deng, Hong-Mei Xiao
Summary: The zona pellucida (ZP) is essential for female fertility in mammals, with ZP1-3 playing important roles. However, the function of ZP4 remains poorly understood. A study on Zp4 knockout (KO) rats found that Zp4 was dispensable for female fertility, as it did not affect ZP morphology or reproductive processes.
BIOLOGY OF REPRODUCTION
(2021)
Review
Genetics & Heredity
Alessandro Bartolacci, Giulia Intra, Giovanni Coticchio, Miriam dell'Aquila, Gilda Patria, Andrea Borini
Summary: This study aims to investigate the impact of oocyte dysmorphisms on the outcomes of assisted reproduction treatments based on the existing scientific literature. Eleven different dysmorphisms were identified, and the COC morphology, vacuoles, SER clusters, and granularity were found to be predominantly associated with negative outcomes.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Genetics & Heredity
Yiming Sun, Yang Zeng, Hua Chen, Zhou Zhou, Jing Fu, Qing Sang, Lei Wang, Xiaoxi Sun, Biaobang Chen, Congjian Xu
Summary: This study identified a novel pathogenic variant in ZP2 that may cause thin ZP and female infertility. The variant affects the assembly of ZP2-ZP3 dimers, and further experimental results confirmed this mechanism of action.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Obstetrics & Gynecology
Rong Hua, Rufeng Xue, Yiyuan Liu, Yuqian Li, Xuan Sha, Kuokuo Li, Yang Gao, Qunshan Shen, Mingrong Lv, Yuping Xu, Zhiguo Zhang, Xiaojin He, Yunxia Cao, Huan Wu
Summary: This study identified a novel homozygous nonsense mutation in the ACR gene leading to male infertility. This mutation caused a deficiency in ACROSIN, which impaired sperm penetration of the egg and resulted in fertilization failure. The findings expand our understanding of the genetic factors involved in human infertility and provide valuable information for genetic counseling and fertility guidance for affected individuals.
HUMAN REPRODUCTION
(2023)
Article
Genetics & Heredity
Jing Wang, Xiaoyu Yang, Xueping Sun, Long Ma, Yaoxue Yin, Guoxiang He, Yuan Zhang, Jie Zhou, Lingbo Cai, Jiayin Liu, Xiang Ma
Summary: A novel homozygous nonsense mutation in ZP1 was identified in a family with female infertility characterized by EFS. Bioinformatics analysis predicted the mutation to be pathogenic, resulting in a truncated ZP1 protein that is localized in the cytoplasm of degenerated oocyte. This study expands the genetic spectrum for EFS and helps justify the EFS diagnosis in patients.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)