PMID- 32164368 OWN - NLM STAT- MEDLINE DCOM- 20201204 LR - 20201214 IS - 1422-0067 (Electronic) IS - 1422-0067 (Linking) VI - 21 IP - 5 DP - 2020 Mar 10 TI - Gene Polymorphisms in Boar Spermatozoa and Their Associations with Post-Thaw Semen Quality. LID - 10.3390/ijms21051902 [doi] LID - 1902 AB - Genetic markers have been used to assess the freezability of semen. With the advancement in molecular genetic techniques, it is possible to assess the relationships between sperm functions and gene polymorphisms. In this study, variant calling analysis of RNA-Seq datasets was used to identify single nucleotide polymorphisms (SNPs) in boar spermatozoa and to explore the associations between SNPs and post-thaw semen quality. Assessment of post-thaw sperm quality characteristics showed that 21 boars were considered as having good semen freezability (GSF), while 19 boars were classified as having poor semen freezability (PSF). Variant calling demonstrated that most of the polymorphisms (67%) detected in boar spermatozoa were at the 3'-untranslated regions (3'-UTRs). Analysis of SNP abundance in various functional gene categories showed that gene ontology (GO) terms were related to response to stress, motility, metabolism, reproduction, and embryo development. Genomic DNA was isolated from sperm samples of 40 boars. Forty SNPs were selected and genotyped, and several SNPs were significantly associated with motility and membrane integrity of frozen-thawed (FT) spermatozoa. Polymorphism in SCLT1 gene was associated with significantly higher motility and plasma membrane integrity of FT spermatozoa from boars of the GSF group compared with those of the PSF group. Likewise, polymorphisms in MAP3K20, MS4A2, and ROBO1 genes were significantly associated with reduced cryo-induced lipid peroxidation and DNA damage of FT spermatozoa from boars of the GSF group. Candidate genes with significant SNP associations, including APPL1, PLBD1, FBXO16, EML5, RAB3C, OXSR1, PRICKLE1, and MAP3K20 genes, represent potential markers for post-thaw semen quality, and they might be relevant for future improvement in the selection procedure of boars for cryopreservation. The findings of this study provide evidence indicating that polymorphisms in genes expressed in spermatozoa could be considered as factors associated with post-thaw semen quality. FAU - Mankowska, Anna AU - Mankowska A AD - Department of Animal Biochemistry and Biotechnology, Faculty of Animal Bioengineering, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland. FAU - Brym, Pawel AU - Brym P AD - Department of Animal Genetics, Faculty of Animal Bioengineering, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland. FAU - Paukszto, Lukasz AU - Paukszto L AUID- ORCID: 0000-0002-3618-1064 AD - Department of Plant Physiology and Biotechnology, Faculty of Biology and Biotechnology, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland. FAU - Jastrzebski, Jan P AU - Jastrzebski JP AUID- ORCID: 0000-0001-8699-7742 AD - Department of Plant Physiology and Biotechnology, Faculty of Biology and Biotechnology, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland. FAU - Fraser, Leyland AU - Fraser L AUID- ORCID: 0000-0002-2997-9991 AD - Department of Animal Biochemistry and Biotechnology, Faculty of Animal Bioengineering, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland. LA - eng GR - 2015/19/B/NZ9/01333/National Science Centre, Poland/ PT - Journal Article DEP - 20200310 PL - Switzerland TA - Int J Mol Sci JT - International journal of molecular sciences JID - 101092791 RN - 0 (3' Untranslated Regions) RN - 0 (Genetic Markers) SB - IM MH - 3' Untranslated Regions MH - Animals MH - Cryopreservation MH - *Gene Regulatory Networks MH - Genetic Association Studies MH - *Genetic Markers MH - Male MH - *Polymorphism, Single Nucleotide MH - Semen/*chemistry MH - Semen Analysis/*veterinary MH - Semen Preservation MH - Sequence Analysis, RNA/veterinary MH - Swine PMC - PMC7084667 OTO - NOTNLM OT - RNA-Seq OT - SNPs OT - freezability OT - genotype OT - variant calling COIS- None of the authors have any conflicts of interest to declare. EDAT- 2020/03/14 06:00 MHDA- 2020/12/15 06:00 PMCR- 2020/03/01 CRDT- 2020/03/14 06:00 PHST- 2020/02/01 00:00 [received] PHST- 2020/03/04 00:00 [revised] PHST- 2020/03/06 00:00 [accepted] PHST- 2020/03/14 06:00 [entrez] PHST- 2020/03/14 06:00 [pubmed] PHST- 2020/12/15 06:00 [medline] PHST- 2020/03/01 00:00 [pmc-release] AID - ijms21051902 [pii] AID - ijms-21-01902 [pii] AID - 10.3390/ijms21051902 [doi] PST - epublish SO - Int J Mol Sci. 2020 Mar 10;21(5):1902. doi: 10.3390/ijms21051902.