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Communication dans un congrès

Meiotic and gene expression analyses in a case of t(1;15) azoospermic boar

Abstract : The systematic cytogenetic screening of young boars carried out for more than 20 years in our laboratory allowed us to accurately estimate the prevalence of balanced structural chromosomal rearrangements in the French pig populations (0.5%). Up to now, more than 39000 boars have been analyzed, and 180 new structural abnormalities have been identified. The most frequent were reciprocal translocations (87%). Contrary to humans, altered semen quality (oligo- or azoospermia) was detected in a few cases only: 4 Y-autosome translocations (Y/1, Y/9, Y/14, Y/16) and one autosome/autosome translocation (1/14). Here, we report the case of a t(1;15) reciprocal translocation identified in an infertile zoospermic boar. Breakpoints position was determined by mate pair sequencing of microdissected translocated chromosomes. Meiotic pairing and recombination were investigated by immunostaining of the SCP1, SCP3, and MLH1 proteins, and analyzed by classical and super resolution microcopy. Finally, the impact of meiotic pairing impairments on SSC1 and SSC15, as well as SSCX and SSCY gene expression was investigated by qPCR. Histological analysis revealed a total meiotic arrest at the spermatocyte I stage. The rearrangement was characterized by the translocation of a large part of the SSC15 onto the SSC1, leading to the formation of a tiny derivative chromosome 15. A quadrivalent was observed in 87% of the 113 spermatocytes analyzed, and a trivalent plus univalent in the remaining cells. 40% of the quadrivalents as as well as 33% of the trivalents were associated with the XY body. A γH2AX positive signal on SSC1 or SSC15 chromatin was observed in 87% of the spermatocytes analyzed. These results confirmed the impairment of meiotic process. We will also present on-going results on synaptonemal complex analysis by super-resolution microscopy and the expression of several genes located on SSC1, SSC15, SSCX and SSCY.
Keywords : meitoc genetic
Type de document :
Communication dans un congrès
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https://hal.inrae.fr/hal-02737986
Déposant : Migration Prodinra <>
Soumis le : mardi 2 juin 2020 - 20:08:03
Dernière modification le : mardi 2 mars 2021 - 09:22:03

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Alain Pinton, Anne Calgaro, Nicolas Mary, Harmonie Barasc, Nathalie Bonnet, et al.. Meiotic and gene expression analyses in a case of t(1;15) azoospermic boar. 23. International Colloquium on Animal Cytogenetics and Genomics (23 ICACG), Jun 2018, Saint-Pétersburg, Russia. 360 p. ⟨hal-02737986⟩

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