SNP g.1007A>G within the porcine DNAL4 gene affects sperm motility traits and percentage of midpiece abnormalities.

Abstract

The flagellar beating of a spermatozoa's axoneme is caused by the varying activation and inactivation of dynein molecules. Dynein, axonemal, light chain 4 (DNAL4) is a functional candidate gene for sperm motility as it encodes a small subunit of the dyneins. We resequenced the porcine DNAL4 using three artificial insemination (AI) boars each with high (>68%) or low (<60%) motility, and detected 23 SNP. These were then genotyped for 82 AI boars. Using spermatological records, significantly negative genetic correlations between ejaculate volume (VOL) and the further spermatological parameters concentration (CONC) (r=-.43), motility of undiluted semen (MOTUD) (r=-.09), motility after 24h (MOT1) (r=-.17) and after 48hr (MOT2) (r=-.23) were estimated. Significantly positive correlations existed between CONC and MOT1 (r=.07) as well as MOT2 (r=.10), between MOTUD and MOT1 (r=.33), between MOTUD and MOT2 (r=.36), and finally between MOT1 and MOT2 (r=.70). Significantly negatively correlated were all motility traits with the parameters abnormal acrosome (AA) (MOTUD r=-.06; MOT1 r=-.08, and MOT2 r=-.1) and presence of cytoplasmic droplet (CD) (MOTUD r=-.07; MOT1 r=-.08; MOT2 r=-.07). Association analyses (single marker regression model; SMR) propose that SNP g.1007A>G, located in the second intron, reduces motility significantly (MOTUD -4.59%; MOT1 -10.33%; MOT2 -19.37%). According to the dominant-recessive model (DRM), genotype AA is always superior compared to genotypes AG and GG (i.e. MOTUD 67.67%, 64.16% and 53.91%; MOT1 54.17%, 43.75% and 28.44%; MOT2 44.12%, 24.91% and 4.97%). The average effect of gene substitution (g.1007A>G) on abnormal midpiece (AM) was 0.71%, the genotypic values-as expressed by LSmeans-were 0.1 (AA) and 0.81 (AG).