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SNP g.1007A>G within the porcine DNAL4 gene affects sperm motility traits and percentage of midpiece abnormalities
Authors:I Wiedemann  A Maehlmeyer  S Jansen  AR Sharifi  C Knorr
Institution:1. Department of Animal Sciences, Livestock Biotechnology and Reproduction, University of Goettingen, Goettingen, Germany;2. Department of Animal Sciences, Animal Breeding and Genetics, University of Goettingen, Goettingen, Germany
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 (DNAL 4 ) is a functional candidate gene for sperm motility as it encodes a small subunit of the dyneins. We resequenced the porcine DNAL 4 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 24 h (MOT 1) (r  = ?.17) and after 48 hr (MOT 2) (r  = ?.23) were estimated. Significantly positive correlations existed between CONC and MOT 1 (r  = .07) as well as MOT 2 (r  = .10), between MOTUD and MOT 1 (r  = .33), between MOTUD and MOT 2 (r  = .36), and finally between MOT 1 and MOT 2 (r  = .70). Significantly negatively correlated were all motility traits with the parameters abnormal acrosome (AA ) (MOTUD r  = ?.06; MOT 1 r  = ?.08, and MOT 2 r  = ?.1) and presence of cytoplasmic droplet (CD ) (MOTUD r  = ?.07; MOT 1 r  = ?.08; MOT 2 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%; MOT 1 ‐10.33%; MOT 2 ‐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%; MOT 1 54.17%, 43.75% and 28.44%; MOT 2 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 LS means—were 0.1 (AA ) and 0.81 (AG ).
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