Partial Deletion of Chromosome 8 β-defensin Cluster Confers Sperm Dysfunction and Infertility in Male Mice

Yu S. Zhou, Sheila Webb, Laura Lettice, Steve Tardif, Fiona Kilanowski, Christine Tyrrell, Heather MacPherson, Fiona Semple, Peter Tennant, Tina Baker, Alan Hart, Paul Devenney, Paul Perry, Tracey Davey, Perdita Barran, Chris L. Barratt, Julia R. Dorin

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    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. © 2013 Zhou et al.
    Original languageEnglish
    Article numbere1003826
    JournalPL o S Genetics
    Issue number10
    Publication statusPublished - Oct 2013


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