Article
Genetics & Heredity
Yongzhe Chen, Zesong Wang, Yueren Wu, Wenbin He, Juan Du, Sufen Cai, Fei Gong, Guangxiu Lu, Ge Lin, Can Dai
Summary: A novel heterozygous deletion in ZP3 was identified in an EFS patient, leading to significant degradation of the ZP3 protein. Abnormal follicular development and ZP assembly were observed in the EFS patient, providing new insights into the pathogenesis of EFS.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Dazhi Zhang, Lixia Zhu, Zhenxing Liu, Xinling Ren, Xue Yang, Dan Li, Yalin Luo, Xuejie Peng, Xiaopei Zhou, Weimin Jia, Meiqi Hou, Zhou Li, Lei Jin, Xianqin Zhang
Summary: The study aimed to identify disease-causing genes related to female infertility, and a novel mutation in the ZP3 gene was identified in a Chinese family. This mutation was found to affect the interactions between ZP3 and ZP2, expanding the mutational and phenotypical spectrum of the ZP3 gene.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Reproductive Biology
Chao Lv, Hua-Lin Huang, Da-Jing Yi, Tian-Liu Peng, Hang-Jing Tan, Ru-Ping Quan, Hong-Wen Deng, Hong-Mei Xiao
Summary: This study found that a mutation in the Zp1 gene resulted in the absence of ZP in rat oocytes, leading to infertility and loss of fertilization capacity.
BIOLOGY OF REPRODUCTION
(2021)
Article
Genetics & Heredity
Na Kong, Qian Xu, Xiaoyue Shen, Xiangyu Zhu, Guangyi Cao
Summary: This study identified a newly discovered genetic locus, the homozygous ZP3(L59H) variant, associated with the occurrence of empty follicle syndrome in female patients. Whole exome sequencing on peripheral blood samples revealed this genetic variant. The findings contribute to a deeper understanding of the role of zona pellucida-related genes in infertility.
FRONTIERS IN GENETICS
(2023)
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
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)
Article
Genetics & Heredity
Weimin Jia, Qingsong Xi, Lixia Zhu, Yalin Luo, Zhou Li, Meiqi Hou, Dazhi Zhang, Xue Yang, Juan Hu, Lei Jin, Xianqin Zhang
Summary: The aim of this study was to identify disease-causing mutations in three infertile female patients diagnosed with abnormal zona pellucida and empty follicle syndrome. The study found three novel mutations in the ZP2 and ZP3 genes, expanding the spectrum of ZP gene mutations and phenotypes, which is beneficial for the genetic diagnosis of infertility in females.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(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)
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
Obstetrics & Gynecology
Tingting Zou, Qingsong Xi, Zhenxing Liu, Zhou Li, Meiqi Hou, Lixia Zhu, Lei Jin, Xianqin Zhang
Summary: In this study, a novel mutation in the ZP1 gene was identified using whole-exome sequencing. The study confirmed the important role of the ZP1 gene in human female reproduction, expanded the mutation spectrum of the gene, and increased its application in the clinical and molecular diagnosis of EFS.
REPRODUCTIVE SCIENCES
(2022)
Review
Biology
Paul M. Wassarman, Eveline S. Litscher
Summary: The presence of a zona pellucida (ZP) is essential for the fertility of female mammals, including mice and humans. It stabilizes the contacts between oocyte microvilli and follicle cell projections, supporting the development of growing oocytes and follicles. The absence of a ZP, due to gene inactivation or mutation, results in a loss of contacts and reduced production of ovulated eggs, leading to female infertility.
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
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
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)
Review
Environmental Sciences
Charalampos Siristatidis, Despoina Tzanakaki, Mara Simopoulou, Christina Vaitsopoulou, Petroula Tsioulou, Sofoklis Stavros, Michail Papapanou, Peter Drakakis, Panagiotis Bakas, Nikolaos Vlahos
Summary: The presence of empty zona pellucida (EZP) in oocytes during in vitro fertilization (IVF) cycles poses challenges in assisted reproduction, with factors such as damage during oocyte retrieval and apoptosis within the zona pellucida implicated. There is limited data on managing EZP, highlighting the need for further research and clinical discussion on treatment options.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Obstetrics & Gynecology
Ping Yang, Xin Luan, Yingqian Peng, Tailai Chen, Shizhen Su, Changming Zhang, Zhao Wang, Lei Cheng, Xin Zhang, Ying Wang, Zi-Jiang Chen, Han Zhao
FERTILITY AND STERILITY
(2017)
Article
Genetics & Heredity
Mengru Yu, Han Zhao, Tailai Chen, Ye Tian, Mei Li, Keliang Wu, Yuehong Bian, Shizhen Su, Yongzhi Cao, Yunna Ning, Hongbin Liu, Zi-Jiang Chen
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2018)
Article
Multidisciplinary Sciences
Ye Tian, Wei Zhang, Shigang Zhao, Yinhua Sun, Yuehong Bian, Tailai Chen, Yanzhi Du, Jiangtao Zhang, Zhao Wang, Tao Huang, Yingqian Peng, Ping Yang, Han Zhao, Zi-Jiang Chen
SCIENTIFIC REPORTS
(2016)
Article
Obstetrics & Gynecology
Shuai Zhao, Tailai Chen, Mengru Yu, Yuehong Bian, Yongzhi Cao, Yunna Ning, Shizhen Su, Jiangtao Zhang, Shigang Zhao
FERTILITY AND STERILITY
(2019)
Article
Obstetrics & Gynecology
Ye Tian, Jie Yang, Yingqian Peng, Tailai Chen, Tao Huang, Changming Zhang, Han Zhao
REPRODUCTIVE SCIENCES
(2020)
Article
Genetics & Heredity
Ping Yang, Changjian Yin, Mei Li, Shuiying Ma, Yongzhi Cao, Changming Zhang, Tailai Chen, Han Zhao
Summary: This study revealed a large number of variants of the TUBB8 gene in infertile females with oocyte or embryonic defects, broadening the mutational and phenotypic spectra of TUBB8 variants. The results further confirmed the critical role of TUBB8 in oocyte maturation, fertilization, and early embryonic development.
Letter
Cell Biology
Honghui Zhang, Tailai Chen, Keliang Wu, Zhenzhen Hou, Shigang Zhao, Chuanxin Zhang, Yuan Gao, Ming Gao, Zi-Jiang Chen, Han Zhao
Article
Genetics & Heredity
Tailai Chen, Yuehong Bian, Xiaoman Liu, Shigang Zhao, Keliang Wu, Lei Yan, Mei Li, Zhenglin Yang, Hongbin Liu, Han Zhao, Zi-Jiang Chen
AMERICAN JOURNAL OF HUMAN GENETICS
(2017)
Letter
Cell Biology
Keliang Wu, Cuiqing Zhong, Tailai Chen, Xiaoyu Zhang, Wenrong Tao, Jingye Zhang, Hongchang Li, Han Zhao, Jinsong Li, Zi-Jiang Chen
Letter
Cell Biology
Keliang Wu, Tailai Chen, Sexin Huang, Cuiqing Zhong, Junhao Yan, Xiaoyu Zhang, Jinsong Li, Yuan Gao, Han Zhao, Zi-Jiang Chen
Article
Obstetrics & Gynecology
Ping Yang, Tailai Chen, Keliang Wu, Zhenzhen Hou, Yang Zou, Mei Li, Xinze Zhang, Junting Xu, Han Zhao
Summary: A homozygous splicing variant (c.788 + 3A>G) in TBPL2 was identified as a genetic factor contributing to oocyte maturation defects, affecting mRNA integrity and oocyte transcriptome. This study emphasizes the critical role of TBPL2 in female reproduction and provides a basis for genetic counseling for infertile individuals with repeated IVF failures.
HUMAN REPRODUCTION
(2021)