β-defensin gene copy number variation in cattle

Abstract β-defensins are peptides with antimicrobial roles, characterized by a conserved tertiary structure. Beyond antimicrobial functions, they exhibit diverse roles in both the immune response and fertility, including involvement in sperm maturation and function. Copy number variation (CNV) of β-defensin genes is extensive across mammals, including cattle, with possible implications for reproductive traits and disease resistance. In this study, we comprehensively catalogue 55 β-defensin genes in cattle. By constructing a phylogenetic tree to identify human orthologues and lineage-specific expansions, we identify 1:1 human orthologues for 35 bovine β-defensins. We also discover extensive β-defensin gene CNV across breeds, with DEFB103 in particular showing extensive multiallelic CNV. By comparing β-defensin expression levels in testis from calves and adult bulls, we find that 14 β-defensins, including DEFB103 , increase in expression during sexual maturation. Analysis of β-defensin gene expression levels in the caput of adult bull epididymis, and β-defensin gene copy number, in 94 matched samples shows expression level of four β-defensins are correlated with genomic copy number, including DEFB103 . We therefore demonstrate extensive copy number variation in bovine β-defensin genes, in particular DEFB103 , with potential functional consequences for fertility.