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

Hum Reprod. 2009 Aug;24(8):2034-43. doi: 10.1093/humrep/dep118. Epub 2009 Apr 29.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Segregation / genetics
  • Female
  • In Situ Hybridization, Fluorescence
  • Male
  • Meiosis / genetics*
  • Models, Animal
  • Oocytes / physiology
  • Sex Factors
  • Sus scrofa / genetics*
  • Translocation, Genetic*