Few sex-autosome chromosome abnormalities have been documented in domestic animal species. In humans, Y-autosome chromosome abnormalities may occur at a rate of 1/2,000 live births, whereas in the domestic pig only 2 Y-autosome reciprocal translocations have been previously described. During a routine cytogenetic screening of young boars, we identified a new Y-autosome translocation carrier, which after puberty showed semen devoid of sperm and testicular hypoplasia with spermatogenesis arrest. Whole chromosome painting by FISH analysis corroborated the reciprocal nature of the chromosomal exchanges between the Y chromosome and SSC13. The possible causes for the observed meiotic arrest of the carrier are reviewed.

1.
Alves C, Carvalho F, Cremades N, Sousa M, Barros A: Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Eur J Hum Genet 10:467-474 (2002).
2.
Barasc H, Mary N, Letron R, Calgaro A, Dudez AM, et al: Y-autosome translocation Interferes with meiotic sex inactivation and expression of autosomal genes: a case study in the pig. Sex Dev 6:143-150 (2012).
3.
Brisset S: Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report. Hum Reprod 20:2168-2172 (2005).
4.
Chen CP, Lin SP, Tsai FJ, Wang TH, Chern SR, Wang W: Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review. Fertil Steril 90:1198.e11-1198.e18 (2008).
5.
Ducos A, Berland H-M, Bonnet N, Calgaro A, Billoux S, et al: Chromosomal control of pig populations in France: 2002-2006 survey. Genet Sel Evol 39:583-597 (2007).
6.
Gustavsson I, Switonski M, Iannuzzi I, Ploen L, Larsson K: Banding studies and synaptonemal complex analysis of an X-autosome translocation in the domestic pig. Cytogenet Cell Genet 50:188-194 (1989).
7.
Homolka D, Ivanek R, Capkova J, Jansa P, Forejt J: Chromosomal rearrangement interferes with meiotic X chromosome inactivation. Genome Res 17:1431-1437 (2007).
8.
Iannuzzi L, Molteni L, Di Meo GP, De Giovanni A, Perucatti A, et al: A case of azoospermia in a bull carrying a Y-autosome reciprocal translocation. Cytogenet Cell Genet 95:225-227 (2001).
9.
Lifschytz E, Lindsley DL: The role of X-chromosome inactivation during spermatogenesis. Proc Natl Acad Sci USA 69:182-186 (1972).
10.
Nielsen J, Rassmussen K: Y/autosomaI translocations. Clin Genet 9:609-617 (1976).
11.
Pinton A, Ducos A, Seguela A, Berland HM, Darre R, et al: Characterization of reciprocal translocations in pigs using dual-colour chromosome painting and primed in situ DNA labelling 6:361-366 (1998).
12.
Pinton A, Raymond Letron I, Berland H, Bonnet N, Calgaro A, et al: Meiotic studies in an azoospermic boar carrying a Y;14 translocation. Cytogenet Genome Res 120:106-111 (2008).
13.
Quach AT, Oluwole O, King WA, Revay T: The porcine TSPY gene Is tricopy but not a copy number variant. PLoS One 10:e0131745 (2015).
14.
Quach AT, Revay T, Villagómez DA, Macedo MP, Sullivan A, et al: Prevalence and consequences of chromosomal abnormalities in Canadian commercial swine herds. Genet Sel Evol 48:66 (2016).
15.
Quilter CR, Blott SC, Mileham AJ, Affara NA, Sargent CA, Griffin DK: A mapping and evolutionary study of porcine sex chromosome genes. Mamm Genome 13:588-594 (2002).
16.
Royo H, Polikiewicz G, Mahadevaiah SK, Prosser H, Mitchell M, et al: Evidence that meiotic sex chromosome inactivation is essential for male fertility. Curr Biol 20:2117-2123 (2010).
17.
Schmitz A, Chaput B, Fouchet P, Guilly MN, Frelat G, Vaiman M: Swine chromosomal DNA quantification by bivariate flow karyotyping and karyotype interpretation. Cytometry 13:703-710 (1992).
18.
Skinner BM, Sargent CA, Churcher C, Hunt T, Herrero J, et al: The pig X and Y chromosomes: structure, sequence, and evolution. Genome Res 26:130-139 (2016).
19.
Singh B, Fisher KR, Yadav BR, Basrur PK: Characterization of a translocation and its impact on fertility in the pig. Genome 37:280-288 (1994).
20.
Subramanian VV, Hochwagen A: The meiotic checkpoint network: step-by-step through meiotic prophase. Cold Spring Harb Perspect Biol 6:a016675-a016675 (2014).
21.
Switonski M, Szczerbal I, Krumrych W, Nowacka-Woszuk J: A case of Y-autosome reciprocal translocation in a Holstein-Friesian bull. Cytogenet Genome Res 132:22-25 (2011).
22.
Telenius H, Carter NP, Bebb CE, Nordenskjöld M, Ponder BAJ, Tunnacliffe A: Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13:718-725 (1992).
23.
Turner JM: Meiotic sex chromosome inactivation. Development 134:1823-1831 (2007).
24.
Turner JM, Aprelikova O, Xu X, Wang R, Kim S, et al: BRCA1, histone H2AX phosphorylation, and male meiotic sex chromosome inactivation. Curr Biol 14:2135-2142 (2004).
25.
Turner JM, Mahadevaiah SK, Fernandez-Capetillo O, Nussenzweig A, Xu X, et al: Silencing of unsynapsed meiotic chromosomes in the mouse. Nat Genet 37:41-47 (2005).
26.
Turner JM, Mahadevaiah SK, Ellis PJ, Mitchell MJ, Burgoyne PS: Pachytene asynapsis drives meiotic sex chromosome inactivation and leads to substantial postmeiotic repression in spermatids. Dev Cell 10:521-529 (2006).
27.
Vallenzasca C, Martignoni M, Galli A: Finding of a bull with Y;17 translocation. Hereditas 113:63-67 (1990).
28.
Villagómez DA, Switonski M, Singh B, Fisher KR, Gustavsson I, Basrur PK: Synaptonemal complex analysis of X-autosome translocation carrier in the domestic pig. Genet Sel Evol 23:222-225 (1991).
29.
Villagómez DA, Quach A, Revay T, St John E, Rezaei S, King W: Prevalence and reproductive consequences of chromosomal abnormalities in Canadian swine herds. Chromosom Res 24:P18 (2016).
30.
Yerle M, Schmitz A, Milan D, Chaput B, Monteagudo L, et al: Accurate characterization of porcine bivariate flow karyotype by PCR and fluorescence in situ hybridization. Genomics 16:97-103 (1993).
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