A recessively inherited sperm defect of Finnish Yorkshire boars was detected more than a decade ago. Affected boars produce ejaculates that contain many spermatozoa with defective acrosomes resulting in low fertility and small litters. The acrosome defect was mapped to porcine chromosome 15 but the causal mutation has not been identified. We reanalyzed microarray-derived genotypes of affected boars and performed a haplotype-based association study. Our results confirmed that the acrosome defect maps to a 12.24 Mb segment of porcine chromosome 15 (P=3.38 x 10 -14 ). In order to detect the mutation causing defective acrosomes, we sequenced the genomes of two affected and three unaffected boars to an average coverage of 11-fold. Read-depth analysis revealed a 55 kb deletion that segregates with the acrosome defect. The deletion encompasses the BOLL gene encoding the boule homolog, RNA binding protein which is an evolutionarily highly conserved member of the DAZ (deleted in azoospermia) gene family. Lack of BOLL expression causes spermatogenic arrest and sperm maturation failure in many species. Our study reveals that absence of BOLL is associated with a sperm defect also in pigs. The acrosomes of boars that carry the deletion in the homozygous state are defective suggesting that lack of porcine BOLL compromises acrosome formation. Our findings warrant further research to investigate the precise function of BOLL during spermatogenesis and sperm maturation in pigs.
Main textReproduction in pigs is monitored at the population scale. Artificial insemination (AI) is widely practiced to enable high reproductive rates for genetically superior boars (Gerrits et al., 2005). Because each AI boar is mated to many sows, factors contributing to establish a pregnancy can be partitioned between males and females (Schaeffer, 1993). The heritability of boar fertility (i.e., the service-sire component) is relatively low, but the heritability of semen quality is higher (Wolf, 2009). Boar semen quality largely affects insemination success and litter size (Broekhuijse et al., 2011), (Holt et al., 1997.The semen quality of AI boars is assessed immediately after ejaculate collection.Parameters that are monitored include concentration, morphology, vitality and motility of sperm. The rigorous monitoring of semen quality facilitates detecting and discarding