PMID- 26133983 OWN - NLM STAT- MEDLINE DCOM- 20160419 LR - 20181113 IS - 1932-6203 (Electronic) IS - 1932-6203 (Linking) VI - 10 IP - 7 DP - 2015 TI - The Porcine TSPY Gene Is Tricopy but Not a Copy Number Variant. PG - e0131745 LID - 10.1371/journal.pone.0131745 [doi] LID - e0131745 AB - The testis-specific protein Y-encoded (TSPY) gene is situated on the mammalian Y-chromosome and exhibits some remarkable biological characteristics. It has the highest known copy number (CN) of all protein coding genes in the human and bovine genomes (up to 74 and 200, respectively) and also shows high individual variability. Although the biological function of TSPY has not yet been elucidated, its specific expression in the testis and several identified binding domains within the protein suggests roles in male reproduction. Here we describe the porcine TSPY, as a multicopy gene with three copies located on the short arm of the Y-chromosome with no variation at three exon loci among 20 animals of normal reproductive health from four breeds of domestic pigs (Pietrain, Landrace, Duroc and Yorkshire). To further investigate the speculation that porcine TSPY is not a copy number variant, we have included five Low-fertility boars and five boars with exceptional High-fertility records. Interestingly, there was no difference between the High- and Low-fertile groups, but we detected slightly lower TSPY CN at all three exons (2.56-2.85) in both groups, as compared to normal animals, which could be attributed to technical variability or somatic mosaicism. The results are based on both relative quantitative real-time PCR (qPCR) and droplet digital PCR (ddPCR). Chromosomal localization of the porcine TSPY was done using fluorescence in situ hybridization (FISH) with gene specific PCR probes. FAU - Quach, Anh T AU - Quach AT AD - Department of Biomedical Sciences, Ontario Veterinary College, University of Guelph, Guelph, Ontario, Canada. FAU - Oluwole, Olutobi AU - Oluwole O AD - Department of Biomedical Sciences, Ontario Veterinary College, University of Guelph, Guelph, Ontario, Canada. FAU - King, William Allan AU - King WA AD - Department of Biomedical Sciences, Ontario Veterinary College, University of Guelph, Guelph, Ontario, Canada. FAU - Revay, Tamas AU - Revay T AD - Department of Biomedical Sciences, Ontario Veterinary College, University of Guelph, Guelph, Ontario, Canada. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20150702 PL - United States TA - PLoS One JT - PloS one JID - 101285081 RN - 0 (Cell Cycle Proteins) SB - IM MH - Animals MH - Cell Cycle Proteins/*genetics MH - *DNA Copy Number Variations MH - Exons MH - Female MH - Fertility MH - Gene Dosage MH - In Situ Hybridization, Fluorescence MH - Male MH - Polymerase Chain Reaction MH - Real-Time Polymerase Chain Reaction MH - Swine MH - Temperature MH - Testis/metabolism PMC - PMC4489747 COIS- Competing Interests: The authors have declared that no competing interests exist. EDAT- 2015/07/03 06:00 MHDA- 2016/04/20 06:00 PMCR- 2015/07/02 CRDT- 2015/07/03 06:00 PHST- 2014/12/30 00:00 [received] PHST- 2015/06/05 00:00 [accepted] PHST- 2015/07/03 06:00 [entrez] PHST- 2015/07/03 06:00 [pubmed] PHST- 2016/04/20 06:00 [medline] PHST- 2015/07/02 00:00 [pmc-release] AID - PONE-D-14-57662 [pii] AID - 10.1371/journal.pone.0131745 [doi] PST - epublish SO - PLoS One. 2015 Jul 2;10(7):e0131745. doi: 10.1371/journal.pone.0131745. eCollection 2015.