Abstract

Chromosomal aberrations are relatively frequent pathologies in both humans and animals. Among them, translocations present a specific meiotic segregation pattern able to give a higher percentage of unbalanced gametes that can induce fertility problems. In this study, the meiotic segregation patterns of 1p, 1q and 18 Bubalus bubalis chromosomes were analyzed in both total sperm fraction and motile sperm fraction of a t(1p;18) carrier and a control bulls by triple-color FISH analysis with a pool of specific BAC probes. The frequencies of each total sperm fraction products in the carrier resulting from alternate, adjacent I, adjacent II and 3:1 segregation were 39%, 20%, 1% and 38%, respectively. On the other hand, the frequencies of each motile sperm fraction products in the carrier resulting from alternate, adjacent I, adjacent II and 3:1 segregation were 93%, 5%, 0% and 2%, respectively. The frequencies of normal sperms in the carrier were 27% and 69% in total sperm fraction and motile sperm fraction, respectively. The frequencies detected in motile sperm fraction were also validated by comparison with bull’s progeny. To our knowledge, this is the first report on the meiotic segregation patterns in motile sperm fractions of B. bubalis bull carrying a chromosomal translocation. These data suggest that translocation has a very limited effect on aneuploidy in the gametes, and therefore, on the reproductive abilities of the bull.

Highlights

  • The reproductive efficiency of bulls is considered one of the most important traits from an economic point of view

  • We have shown that 27% of total sperm fraction (TSF) of the carrier has resulted normal, while the 12% were balanced

  • In TSF of the carrier, we have found a high percentage of Adjacent I (20%) and 3:1 (38%) segregations not detected in motile sperm fraction (MSF)

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Summary

Introduction

The reproductive efficiency of bulls is considered one of the most important traits from an economic point of view. CT involve the exchange of chromosomal material between the arms of heterologous chromosomes, thereby changing genetic positioning but, hardly ever, the amount of genetic material They modify the meiotic division of germ cells giving race to normal and translocated (unbalanced spermatozoa) chromosomes formation by two type of segregation: 2:2 (alternate, adjacent I or adjacent II) and 3:1. This condition, in a carrier, can generate an elevated percentage of chromosomally unbalanced gametes that can reduce its reproductive success and increase the risk of transmitting chromosomal anomalies to offspring [6,7]. Recent molecular studies suggest that rob(1;29) can have a pericentric inversion or a transposition, in addition to the centric fusion [12,13]

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