Chromosome Abnormalities and Fertility in Domestic Bovids: A Review

SIMPLE SUMMARY: In domestic bovids, numerical autosome abnormalities have been rarely reported, as they present abnormal animal phenotypes quickly eliminated by breeders. However, numerical abnormalities involving sex chromosomes and structural (balanced) chromosome anomalies have been more frequently detected because they are most often not phenotypically visible to breeders. For this reason, these chromosome abnormalities, without a cytogenetic control, escape animal selection, with subsequent deleterious effects on fertility, especially in female carriers. ABSTRACT: After discovering the Robertsonian translocation rob(1;29) in Swedish red cattle and demonstrating its harmful effect on fertility, the cytogenetics applied to domestic animals have been widely expanded in many laboratories in order to find relationships between chromosome abnormalities and their phenotypic effects on animal production. Numerical abnormalities involving autosomes have been rarely reported, as they present abnormal animal phenotypes quickly eliminated by breeders. In contrast, numerical sex chromosome abnormalities and structural chromosome anomalies have been more frequently detected in domestic bovids because they are often not phenotypically visible to breeders. For this reason, these chromosome abnormalities, without a cytogenetic control, escape selection, with subsequent harmful effects on fertility, especially in female carriers. Chromosome abnormalities can also be easily spread through the offspring, especially when using artificial insemination. The advent of chromosome banding and FISH-mapping techniques with specific molecular markers (or chromosome-painting probes) has led to the development of powerful tools for cytogeneticists in their daily work. With these tools, they can identify the chromosomes involved in abnormalities, even when the banding pattern resolution is low (as has been the case in many published papers, especially in the past). Indeed, clinical cytogenetics remains an essential step in the genetic improvement of livestock.