ArticleJournal of cellular and molecular medicine2020
Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human.
Article in Journal of cellular and molecular medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 54 citations in OpenAlex.
- Molecular interplay between sperm and oocyte: a narrative review.Human reproduction update · 2026Review
- A recurrent North African ZP1 variant and a literature review of genotype-phenotype correlations in ZP-related infertility.Journal of assisted reproduction and genetics · 2026Review
- Metaphase I-arrest oocyte with agar-like zona pellucida, abandon or not abandon?Journal of ovarian research · 2026Article
- Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.Human genetics · 2026Article
- Membrane Fusions During Mammalian Fertilization.Advances in experimental medicine and biology · 2026Review
- Dynamic Remodeling of the Zona Pellucida: Implications for Oocyte Competence and Assisted Reproduction.International journal of molecular sciences · 2025Review
- Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.Journal of translational medicine · 2025Article
- A novel mutation in ZP3 causes human ovulatory dysfunction and oocyte maturation arrest.Journal of ovarian research · 2025Article
- A Compound Heterozygous Pathogenic Variant in ZP2 Gene Causes Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- A compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome.Journal of ovarian research · 2025Article
- Review
- Novel Genetic Variants inInternational journal of medical sciences · 2025Article
- Cellular mechanisms of monozygotic twinning: clues from assisted reproduction.Human reproduction update · 2024Review
- Novel Loss-of-function Variants of ZP3 Associated with Premature Ovarian Insufficiency.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility.Journal of ovarian research · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Article
- Ovastacin: An oolemma protein that cleaves the zona pellucida to prevent polyspermy.Clinical and experimental reproductive medicine · 2023Article
- A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.Journal of assisted reproduction and genetics · 2023Article
- Effect of In Vitro Maturation of Human Oocytes Obtained After Controlled Ovarian Hormonal Stimulation on the Expression of Development- and Zona Pellucida-Related Genes and Their Interactions.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human zona pellucida (ZP) is a highly organized glycoprotein matrix that encircles oocytes and plays an essential role in successful reproduction. Previous studies have reported that mutations in human ZP1, ZP2 and ZP3 influence their functions and result in a lack of ZP or in an abnormal oocytes and empty follicle syndrome, which leads to female infertility. Here, we performed whole-exome sequencing in two probands with primary infertility whose oocytes lacked a ZP, and we identified a heterozygous mutation in ZP1 (NM_207341:c.326G>A p.Arg109His), which is situated in the N-terminus, and a heterozygous mutation in ZP3 (NM_001110354:c.400G>A p.Ala134Thr), which is situated in the ZP domain. The effects of the mutations were investigated through structure prediction and in vitro studies in HeLa cells. The results, which were in line with the phenotype, suggested that these mutations might impede the function of cross-linking and secretion of ZP proteins. Our study showed that the two mutations in ZP1 and ZP3 influenced the formation of the ZP, causing female infertility. Meanwhile, these data highlight the importance of the ZP1 N-terminus in addition to the conserved domains for ZP1 function and ZP formation. Additionally, the patient with the ZP1 mutation delivered a baby following intracytoplasmic sperm injection (ICSI); thus, we suggest the targeted genetic diagnosis of ZP genes to choose appropriate fertilization methods and improve the success rate of assisted reproductive technology (ART) treatments.
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