title: Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation.
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.
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France. h.barasc@envt.fr.
authors.forename: Harmonie
authors.initials: H
authors.lastname: Barasc
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Annabelle
authors.initials: A
authors.lastname: Congras
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Mary
authors.affiliation: LISBP, Université de Toulouse, CNRS, INRA, INSA, Toulouse, France.
authors.forename: Lidwine
authors.initials: L
authors.lastname: Trouilh
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Valentine
authors.initials: V
authors.lastname: Marquet
authors.affiliation: GenESI Génétique, Expérimentation et Système Innovants, 17700, Saint-Pierre-d'Amilly, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Ferchaud
authors.affiliation: STROMALab, Université de Toulouse, CNRS ERL 5311, EFS, ENVT, Inserm U1031, UPS, Toulouse, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Raymond-Letron
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Calgaro
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Loustau-Dudez
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Mouney-Bonnet
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Hervé
authors.initials: H
authors.lastname: Acloque
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Ducos
authors.affiliation: GenPhySE, Université de Toulouse, INRA, INPT, ENVT, Toulouse, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Pinton
mesh_terms: D000818:Animals; D023902:Chromosome Pairing; D015870:Gene Expression; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D008540:Meiosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D013090:Spermatocytes / Q000378:metabolism*; D013094:Spermatozoa; D034421:Sus scrofa; D013737:Testis; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics
keywords: Infertility; MSCI disturbance; MSUC; Meiosis; Reciprocal translocation; Recombination