UNASSIGNED: b-defensin peptides are a large family of antimicrobial peptides. Although they kill microbes in vitro and interact with immune cells, the precise role of these genes in vivo remains uncertain. Despite their inducible presence at mucosal surfaces, their main site of expression is the epididymis. Recent evidence suggests that a major function of these peptides is in sperm maturation. In addition to previous work suggesting this, work at the MRC @entity1 Genetics Unit, Edinburgh, has shown that homozygous deletion of a cluster of nine b-defensin genes in the @entity19 results in profound male sterility. The spermatozoa derived from the mutants had reduced motility and @entity2100 . Epididymal spermatozoa isolated from the cauda region of the homozygous mutants demonstrated precocious capacitation and increased spontaneous acrosome reactions compared with those from wild-types. Despite this, these mutant spermatozoa had reduced ability to bind to the zona pellucida of oocytes. Ultrastructural examination revealed a disintegration of the microtubule structure of mutant-derived spermatozoa isolated from the epididymal cauda region, but not from the caput. Consistent with premature acrosome reaction and hyperactivation, spermatozoa from mutant animals had significantly increased intracellular @entity460 content. This work demonstrates that in vivo b-defensins are essential for successful sperm maturation, and that their disruption alters intracellular @entity460 levels, which most likely leads to premature activation and spontaneous acrosome reactions that result in hyperactivation and loss of microtubule structure of the axoneme. Determining which of the nine genes are responsible for the phenotype and the relevance to @entity1 sperm function is important for future work on @entity4810 .

Novel phenotype of XXXX spermatozoa following deletion of nine b-defensin genes.

@entity1 :: ('9606', 'Species') :: ['human', 'Human'] @entity4810 :: ('MESH:D007248', 'Disease') :: ['male infertility'] @entity19 :: ('10090', 'Species') :: ['mouse'] @entity2100 :: ('MESH:D005600', 'Disease') :: ['increased fragility'] @entity460 :: ('MESH:D002118', 'Chemical') :: ['calcium']
@entity19 :: (10090,Species) :: ['mouse']
