ArticlePLoS genetics2013
Partial deletion of chromosome 8 β-defensin cluster confers sperm dysfunction and infertility in male mice.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed, 100 citations in OpenAlex.
- Testis-specific knockout of Elovl4 reduces sperm motility and fertility in male mice.Scientific reports · 2026Article
- Functional analysis of genes enriched in male reproductive organs: validation via fertility assessment of 14 knockout mouse lines.Frontiers in cell and developmental biology · 2026Article
- Proton-Secreting Cells as Drivers of Inflammation and Sperm Dysfunction in LPS-Induced Epididymitis.Function (Oxford, England) · 2025Article
- Impact of β-defensin 103 (DEFB103) copy number variation on bull sperm parameters and post-insemination uterine gene expression.PloS one · 2025Article
- Epididymis-specific RNase A family genes regulate fertility and small RNA processing.The Journal of biological chemistry · 2024Article
- β-Defensin gene copy number variation in cattle.Royal Society open science · 2024Article
- Epididymis-specific RNase A family genes regulate fertility and small RNA processing.bioRxiv : the preprint server for biology · 2024Article
- Comparison of SPAG11A gene expression in infertile men with grade 1 and 2 varicocele before and after treatment.JBRA assisted reproduction · 2024Article
- Single-cell and spatial transcriptomic investigation reveals the spatiotemporal specificity of the beta-defensin gene family during mouse sperm maturation.Cell communication and signaling : CCS · 2024Article
- Distinct actions of testicular endocrine and lumicrine signaling on the proximal epididymal transcriptome.Reproductive biology and endocrinology : RB&E · 2024Article
- Expression of NELL2/NICOL-ROS1 lumicrine signaling-related molecules in the human male reproductive tract.Reproductive biology and endocrinology : RB&E · 2024Article
- Mechanisms That Protect Mammalian Sperm from the Spontaneous Acrosome Reaction.International journal of molecular sciences · 2023Review
- Lumicrine signaling: Extracellular regulation of sperm maturation in the male reproductive tract lumen.Genes to cells : devoted to molecular & cellular mechanisms · 2023Review
- Defensins: defenders of human reproductive health.Human reproduction update · 2023Review
- Various gene modification techniques to discover molecular targets for nonhormonal male contraceptives: A review.International journal of reproductive biomedicine · 2023Review
- Article
- Keratinocyte-derived defensins activate neutrophil-specific receptors Mrgpra2a/b to prevent skin dysbiosis and bacterial infection.Immunity · 2022Article
- Involvement of Porcine β-Defensin 129 in Sperm Capacitation and Rescue of Poor Sperm in Genital Tract Infection.International journal of molecular sciences · 2022Article
- Crucial Convolution: Genetic and Molecular Mechanisms of Coiling during Epididymis Formation and Development in Embryogenesis.Journal of developmental biology · 2022Review
- Immunomodulatory and Allergenic Properties of Antimicrobial Peptides.International journal of molecular sciences · 2022Review
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17 authors at 5 institutions in 1 country.
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Abstract
β-defensin peptides are a family of antimicrobial peptides present at mucosal surfaces, with the main site of expression under normal conditions in the male reproductive tract. Although they kill microbes in vitro and interact with immune cells, the precise role of these genes in vivo remains uncertain. We show here that homozygous deletion of a cluster of nine β-defensin genes (DefbΔ9) in the mouse results in male sterility. The sperm derived from the mutants have reduced motility and increased fragility. Epididymal sperm isolated from the cauda should require capacitation to induce the acrosome reaction but sperm from the mutants demonstrate precocious capacitation and increased spontaneous acrosome reaction compared to wild-types but have reduced ability to bind the zona pellucida of oocytes. Ultrastructural examination reveals a defect in microtubule structure of the axoneme with increased disintegration in mutant derived sperm present in the epididymis cauda region, but not in caput region or testes. Consistent with premature acrosome reaction, sperm from mutant animals have significantly increased intracellular calcium content. Thus we demonstrate in vivo that β-defensins are essential for successful sperm maturation, and their disruption leads to alteration in intracellular calcium, inappropriate spontaneous acrosome reaction and profound male infertility.
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