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Chromosome Res. 2016 Dec;24(4):511-527. doi: 10.1007/s10577-016-9533-9. Epub 2016 Aug 02.

Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology

Harmonie Barasc, Annabelle Congras, Nicolas Mary, Lidwine Trouilh, Valentine Marquet, Stéphane Ferchaud, Isabelle Raymond-Letron, Anne Calgaro, Anne-Marie Loustau-Dudez, Nathalie Mouney-Bonnet, Hervé Acloque, Alain Ducos, Alain Pinton

Affiliations

  1. GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France. [email protected].
  2. GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
  3. LISBP, Université de Toulouse, CNRS, INRA, INSA, Toulouse, France.
  4. GenESI Génétique, Expérimentation et Système Innovants, 17700, Saint-Pierre-d'Amilly, France.
  5. STROMALab, Université de Toulouse, CNRS ERL 5311, EFS, ENVT, Inserm U1031, UPS, Toulouse, France.

PMID: 27484982 PMCID: PMC5167775 DOI: 10.1007/s10577-016-9533-9

Abstract

Individuals carrying balanced constitutional reciprocal translocations generally have a normal phenotype, but often present reproductive disorders. The aim of our research was to analyze the meiotic process in an oligoasthenoteratospermic boar carrying an asymmetric reciprocal translocation involving chromosomes 1 and 14. Different multivalent structures (quadrivalent and trivalent plus univalent) were identified during chromosome pairing analysis. Some of these multivalents were characterized by the presence of unpaired autosomal segments with histone γH2AX accumulation sometimes associated with the XY body. Gene expression in spermatocytes was studied by RNA-DNA-FISH and microarray-based testis transcriptome analysis. Our results revealed a decrease in gene expression for chromosomes 1 and 14 and an up-regulated expression of X-chromosome genes for the translocated boar compared with normal individuals. We hypothesized that the observed meiotic arrest and reproductive failure in this boar might be due to silencing of crucial autosomal genes (MSUC) and disturbance of meiotic sex chromosome inactivation (MSCI). Further analysis revealed abnormal meiotic recombination (frequency and distribution) and the production of a high rate of unbalanced spermatozoa.

Keywords: Infertility; MSCI disturbance; MSUC; Meiosis; Reciprocal translocation; Recombination

Conflict of interest statement

Compliance with ethical standards Ethical standards According to the European Directive 2010/63/EU on the protection of animals used for scientific purposes, the procedure for testes collection was ac

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