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
Oncology
Dominik Kraus, Alexander Glassmann, Carsten Golletz, Glen Kristiansen, Jochen Winter, Rainer Probstmeier
Summary: Our study reveals ZP2 as a new biomarker for colon cancer diagnosis, especially when used in combination with other low abundant genes. ZP2 promotes cell proliferation via the ERK1/2-cyclinD1-signaling pathway, and its specific and low-abundant expression in cancer cell lines and primary colon cancers suggests its potential as a diagnostic tool. The enhanced expression of ZP2 in colon cancer tissues and its role in cell proliferation make it a promising target for cancer therapy when used in combination with other biomarkers.
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
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
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)
Review
Cell Biology
Lucie Tumova, Michal Zigo, Peter Sutovsky, Marketa Sedmikova, Pavla Postlerova
Summary: The interaction between sperm and the zona pellucida (ZP) is crucial for successful fertilization in mammals, involving the binding of sperm surface ligands to complementary carbohydrates of ZP. Understanding the mechanisms of sperm-ZP interaction is critical for diagnosing infertility and improving assisted reproductive therapies/technologies.
Article
Multidisciplinary Sciences
Seulgi Mun, Mi Young Noh, Erika R. Geisbrecht, Karl J. Kramer, Subbaratnam Muthukrishnan, Yasuyuki Arakane
Summary: Chitin deacetylases (CDAs) play a crucial role in arthropod locomotion and muscle attachment. Depletion of CDAs results in tendon cuticle breakage, muscle detachment, and defective locomotion. Furthermore, CDA deficiency leads to disrupted microtubule development, loss of adhesion junctions, and abnormal morphology of tendon cells.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Endocrinology & Metabolism
Erica T. Y. Leung, Brayden K. M. Lee, Cheuk-Lun Lee, Xinyi Tian, Kevin K. W. Lam, Raymond H. W. Li, Ernest H. Y. Ng, William S. B. Yeung, Jian-Ping Ou, Philip C. N. Chiu
Summary: Human fertilization begins with the binding of a capacitated spermatozoon to the zona pellucida surrounding a mature oocyte. The interaction between defective spermatozoa and the zona pellucida contributes to male infertility and reduced fertilization rates in assisted reproduction treatments. This study aims to demonstrate that the spermatozoa-zona pellucida interaction plays a crucial role in selecting fertilization-competent spermatozoa in humans.
FRONTIERS IN ENDOCRINOLOGY
(2023)
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
Multidisciplinary Sciences
Naoki Hirose, Genevieve Blanchet, Yasuhiro Yamauchi, Abigail C. Snow, Robin Friedman, Carmen Y. Khoo, Christine W. Lary, Monika A. Ward, Joseph H. Nadeau
Summary: This study investigates the non-random union of gametes in fertilization using in vitro fertilization with mutant and wild-type alleles. The results show that the bias depends on the genetics of oocyte and sperm, and that any environmental input is modest. Transcriptome analysis reveals that the mutation affects the localization of mRNA targets in spermatids and leads to functional differences among spermatids, providing an opportunity for selection among haploid gametes.
SCIENTIFIC REPORTS
(2022)
Review
Genetics & Heredity
Paul M. Wassarman, Eveline S. Litscher
Summary: The zona pellucida (ZP) surrounding mammalian oocytes and eggs consists of unique glycosylated proteins (ZP1-4), with polypeptide regions (ZPD) that play a crucial role in the polymerization of ZP proteins into fibrils. ZP genes are conserved among mammals and regulated by cis-acting sequences and trans-acting factors. Mutations in ZP genes can detrimentally affect ZP formation and female fertility, highlighting the importance of ZPD subdomains in fibril polymerization.
Article
Andrology
Nobuyuki Sakurai, Yoshitaka Fujihara, Kiyonori Kobayashi, Masahito Ikawa
Summary: This study reveals the important role of epididymis-enriched genes in sperm maturation and acquisition of fertilizing ability. Knockout of these genes leads to reduced fertility in male mice.
Article
Veterinary Sciences
Beibei Zhang, Guanggang Qu, Yuchen Nan, En-Min Zhou
Summary: The study found that infertility caused by ZP3 vaccination is associated with ovarian oxidative stress and follicle loss. Antioxidant stress drugs can reduce oxidative stress and apoptosis levels, restore follicle numbers, and improve fertility.
FRONTIERS IN VETERINARY SCIENCE
(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
Immunology
Khadijeh Ghasemian, Inge Broer, Jennifer Schoen, Nadine Kolp, Richard Killisch, Jana Huckauf
Summary: Contraceptive vaccines stimulate immune responses to molecules involved in reproduction. This study used a plant expression system to produce glycosylated mZP3 and evaluated its immunogenicity. The results showed that plant-produced mZP3 antigens, especially mZP3-3, exhibited high immunogenicity in mice.
