ArticleMolecular human reproduction2012
Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men.
Article in Molecular human reproduction, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Evaluation of the association between polymorphisms of PRM1 and PRM2 and the risk of male infertility: a systematic review, meta-analysis, and meta-regression.Scientific reports · 2020Pooled it
- Spatial Organization of the Sperm Cell Glycoproteome.Molecular & cellular proteomics : MCP · 2025Article
- Proteomic analysis of Toraya buffalo seminal plasma and sperm: uncovering insights to optimize reproductive success.Frontiers in veterinary science · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Male infertility and perfluoroalkyl and poly-fluoroalkyl substances: evidence for alterations in phosphorylation of proteins and fertility-related functional attributes in bull spermatozoa†.Biology of reproduction · 2024Article
- Disruption ineLife · 2024Article
- Risk of Sperm Disorders and Impaired Fertility in Frozen-Thawed Bull Semen: A Genome-Wide Association Study.Animals : an open access journal from MDPI · 2024Article
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Article
- A novel mutation inFrontiers in endocrinology · 2023Article
- Semen Proteomics of COVID-19 Convalescent Men Reveals Disruption of Key Biological Pathways Relevant to Male Reproductive Function.ACS omega · 2022Article
- FAM71F1 binds to RAB2A and RAB2B and is essential for acrosome formation and male fertility in mice.Development (Cambridge, England) · 2021Article
- Comparative Proteomic Analysis of Young and Adult Bull (Animals : an open access journal from MDPI · 2021Article
- Sperm morphology and DNA fragmentation after zona pellucida selection.Reproduction & fertility · 2021Article
- Deletion of theInternational journal of molecular sciences · 2021Article
- Review
- Towards Post-Meiotic Sperm Production: Genetic Insight into Human Infertility from Mouse Models.International journal of biological sciences · 2021Review
- Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.Human genetics · 2021Article
- Significance and Relevance of Spermatozoal RNAs to Male Fertility in Livestock.Frontiers in genetics · 2021Review
- Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.Human reproduction (Oxford, England) · 2020Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Nearly 7% of men are afflicted by male infertility worldwide, and genetic factors are suspected to play a significant role in the majority of these patients. Although sperm morphology is an important parameter measured in the semen analysis, only a few genetic causes of teratozoospermia are currently known. The objective of this study was to define the association between alterations in the genes encoding the Golgi-associated PDZ- and coiled-coil motif containing protein (GOPC), the protein interacting with C kinase 1 (PICK1) and the acrosomal protein zona pellucida binding protein 1 (ZPBP1/sp38) with abnormal sperm head morphology in infertile men. Previous reports demonstrated that mice lacking Gopc, Pick1 and Zpbp1 are infertile due to abnormal head morphology. Herein, using our validated RNA-based method, we studied spermatozoal cDNA encoding the human GOPC, PICK1 and ZPBP1 genes in 381 teratozoospermic and 240 controls patients via direct sequencing. Among these genes, we identified missense and splicing mutations in the sperm cDNA encoding ZPBP1 in 3.9% (15/381) of men with abnormal sperm head morphology. These mutations were not observed in 240 matched controls and the dbSNP database (χ(2) = 9.3, P = 0.002). In contrast, statistically significant and functionally relevant mutations were not discovered in the GOPC and PICK1 genes. In our study ZPBP1 mutations are associated with abnormal sperm head morphology, defined according to strict criteria, resembling the mouse Zpbp1 null phenotype. We hypothesize that missense mutations exert a dominant-negative effect due to altered ZPBP1 protein folding and protein:protein interactions in the acrosome.
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