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Genome-wide association study for frozen-thawed sperm motility in stallions across various horse breeds

  • Nikitkina, Elena V. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Dementieva, Natalia V. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Shcherbakov, Yuri S. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Atroshchenko, Mikhail M. (All-Russian Research Institute for Horse Breeding) ;
  • Kudinov, Andrei A. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Samoylov, Oleg I. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Pozovnikova, Marina V. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Dysin, Artem P. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Krutikova, Anna A. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Musidray, Artem A. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Mitrofanova, Olga V. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Plemyashov, Kirill V. (Russian Research Institute for Farm Animal Genetics and Breeding - Branch of the L. K. Ernst Federal Science Center for Animal Husbandry) ;
  • Griffin, Darren K. (School of Biosciences, University of Kent) ;
  • Romanov, Michael N. (School of Biosciences, University of Kent)
  • Received : 2021.11.12
  • Accepted : 2022.02.23
  • Published : 2022.12.01

Abstract

Objective: The semen quality of stallions including sperm motility is an important target of selection as it has a high level of individual variability. However, effects of the molecular architecture of the genome on the mechanisms of sperm formation and their preservation after thawing have been poorly investigated. Here, we conducted a genome-wide association study (GWAS) for the sperm motility of cryopreserved semen in stallions of various breeds. Methods: Semen samples were collected from the stallions of 23 horse breeds. The following semen characteristics were examined: progressive motility (PM), progressive motility after freezing (FPM), and the difference between PM and FPM. The respective DNA samples from these stallions were genotyped using Axiom Equine Genotyping Array. Results: We performed a GWAS search for single nucleotide polymorphism (SNP) markers and potential genes related to motility properties of frozen-thawed semen in the stallions of various breeds. As a result of the GWAS analysis, two SNP markers, rs1141327473 and rs1149048772, were identified that were associated with preservation of the frozen-thawed stallion sperm motility, the relevant putative candidate genes being NME/NM23 family member 8 (NME8), olfactory receptor family 2 subfamily AP member 1 (OR2AP1), and olfactory receptor family 6 subfamily C member 4 (OR6C4). Potential implications of effects of these genes on sperm motility are herein discussed. Conclusion: The GWAS results enabled us to localize novel SNPs and candidate genes for sperm motility in stallions. Implications of the study for horse breeding and genetics are a better understanding of genomic regions and candidate genes underlying stallion sperm quality, and improvement in horse reproduction and breeding techniques. The identified markers and genes for sperm cryotolerance and the respective genomic regions are promising candidates for further studying the biological processes in the formation and function of the stallion reproductive system.

Keywords

Acknowledgement

The Russian Science Foundation, grant number 18-16-00071, has funded this research. We are greatly indebted to the bioresource collection "Cryobank of Genetic Resources", ARRIHB, Ryazan Region, Russia, for the samples of the frozen stallion sperm provided. For sharing the stallion photos, we thank very much Mrs. Olga Makarova (Figure 1A), Mrs. Tatiana Linenko (Figure 1B), Mrs. Svetlana Burmistrova (Figures 1C and 1D), and Mrs. Natalia Frolova (Figure 1E). The skilled technical assistance of Mrs. Olga M. Romanova in preparing figures is kindly appreciated.

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