Hum. Reprod. Advance Access originally published online on April 29, 2009
Human Reproduction 2009 24(8):2034-2043; doi:10.1093/humrep/dep118
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Influence of sex on the meiotic segregation of a t(13;17) Robertsonian translocation: a case study in the pig
1 INRA-ENVT, UMR 444 Génétique Cellulaire, F-31076 Toulouse, France 2 INRA/UEICP, F-86480 Rouillé, France
3 Correspondence address. E-mail: a.pinton{at}envt.fr
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.
Key words: chromosome pairing/meiosis/pig/Robertsonian translocation/segregation
Submitted on January 7, 2009; resubmitted on March 27, 2009; accepted on April 7, 2009.