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Influence of sex on the meiotic segregation of a t(13;17) Robertsonian translocation: a case study in the pig

Abstract : Background: Comparison of male versus female meiotic segregation patterns for Robertsonian translocation (RT) carriers with similar genetic background has rarely been reported in mammalian species. Methods: The aim of this study was to compare the segregation patterns determined for related males and females carrying a 13;17 RT in an animal model (Sus scrofa domestica L.), using dual colour fluorescence in situ hybridization on decondensed sperm nuclei and metaphases II of in vitro-matured oocytes. Results: In males, no association between the trivalent and the XY body was observed in any of the 90 pachytene nuclei studied, and the rate of unbalanced spermatozoa ranged between 2.96% and 3.83%. Female meiotic segregation analyses were carried out on 83 metaphase II oocytes. The rate of unbalanced gametes was higher in females than in males (28.91% versus 3.21%, P < 0.001). This difference was due to higher rates of diploid gametes (12.04% versus 0.05%) and unbalanced gametes produced by the adjacent segregation (16.86% versus 3.16%). Conclusions: This study is a new scientific contribution to the comparison of segregation patterns in related males and females carrying an identical chromosomal rearrangement. It allows a better understanding of the meiotic behaviour of RTs. It also clearly illustrates the relevance of swine as an animal model for such meiotic studies.
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Submitted on : Sunday, May 31, 2020 - 4:43:00 AM
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Alain Pinton, Anne Calgaro, N. Bonnet, Stéphane Ferchaud, S. Billoux, et al.. Influence of sex on the meiotic segregation of a t(13;17) Robertsonian translocation: a case study in the pig. Human Reproduction, Oxford University Press (OUP), 2009, 24 (8), pp.2034-2043. ⟨10.1093/humrep/dep118⟩. ⟨hal-02664363⟩

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