Missense mutation in glutathione-S-transferase M1 gene is associated with sperm motility and ATP content in frozen-thawed semen of Holstein-Friesian bulls

• Quality of bull semen is affected by mutation within glutathione-S-transferase M1 gene (GSTM1).
• GSTM1 mutation is associated with ATP content and total motility of frozen-thawed sperm.
• Bulls with GSTM1 CC genotype show significant decrease of sperm motility and ATP content.
• Bulls with GSTM1 CC genotype should be avoided by Artificial Insemination industry.

Glutathione-S-transferase genes (GSTs) encode enzymes that are involved in detoxification and neutralization of reactive oxygen species (ROS) in male reproductive system and play protective role during spermatogenesis. The aim of the study was to evaluate whether C/G missense mutation (rs135955605) within glutathione-S-transferase M1 (GSTM1) gene is associated with selected parameters of frozen-thawed semen in 309 Holstein-Friesian bulls. Single nucleotide substitution C/G was identified by amplification of GSTM1 gene fragment followed be digestion with restriction enzyme DdeI. Bulls with GG genotype were the most frequent (67.96%), in comparison to CC (2.59%) and GC (29.45%). Significant associations were found between GSTM1 genotypes and ATP content and total sperm motility. Bulls with GG genotype had the highest values for both traits. Rare variant C of GSTM1 was associated with significant decrease of sperm motility and ATP content. Our results demonstrate that C/G missense mutation within GSTM1 gene is involved in bull sperm quality.