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Home / Equine Research Bank / J Appl Genet / From cytogenetics to cytogenomics: a new era in the diagnosi...
Journal of applied genetics2025; 66(3); 661-673; doi: 10.1007/s13353-025-00943-x

From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals.

Abstract: Identification of chromosomal abnormalities is an important issue in animal breeding and veterinary medicine. Routine cytogenetic diagnosis of domestic animals began in the 1960s with the aim of identifying carriers of centric fusion between chromosome 1 and 29 in cattle. In the 1970s, chromosome banding techniques were introduced, and in the 1980s, the first cytogenomic techniques, based on the development of locus- and chromosome-specific probes, were used. Since the beginning of the twenty-first century, molecular techniques (such as polymorphism of microsatellite markers, droplet digital PCR, SNP microarrays, and whole genome sequencing) have begun to be widely used in animal breeding. This review is focused on the cytogenomic diagnosis of chromosome abnormalities in cattle, horses, pigs, dogs, and cats. We show that these approaches are very useful in large-population screening studies of the prevalence of aneuploidies (mainly of sex chromosomes) and structural rearrangements (centric fusions and reciprocal translocations).
© 2025. The Author(s), under exclusive licence to Institute of Plant Genetics Polish Academy of Sciences.
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Publication Date: 2025-01-27 PubMed ID: 39869248PubMed Central: 7444045DOI: 10.1007/s13353-025-00943-xGoogle Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

Overview

  • This research article reviews the progression from traditional cytogenetic methods to advanced cytogenomic techniques for diagnosing chromosomal abnormalities in domestic animals.
  • It emphasizes the utility of modern molecular tools in screening and identifying chromosomal aberrations in key livestock and companion animals.

Introduction to Chromosomal Abnormalities in Domestic Animals

  • Chromosomal abnormalities can adversely affect animal breeding and veterinary health.
  • Accurate identification of these abnormalities is critical for effective breeding programs and disease prevention.
  • Historically, cytogenetics—the study of chromosomes under a microscope—has been used for diagnosis.

Historical Development of Cytogenetic and Cytogenomic Techniques

  • 1960s: Routine cytogenetic diagnosis began, notably to detect centric fusion (Robertsonian translocations) between chromosomes 1 and 29 in cattle.
  • 1970s: Introduction of chromosome banding techniques improved the resolution and identification of individual chromosomes and their structural abnormalities.
  • 1980s: The advent of cytogenomic techniques, facilitated by locus- and chromosome-specific probes, allowed detection of more subtle and complex chromosomal changes.
  • 21st century: Integration of molecular tools such as microsatellite marker polymorphism analysis, droplet digital PCR, SNP microarrays, and whole genome sequencing expanded diagnostic capabilities beyond cytogenetics.

Key Molecular Techniques in Cytogenomic Diagnosis

  • Microsatellite Marker Polymorphism: Utilizes variation in short tandem repeats to identify genetic differences and chromosomal abnormalities.
  • Droplet Digital PCR (ddPCR): Allows precise quantification of DNA sequences, useful for detecting copy number variations and specific chromosomal aberrations.
  • SNP Microarrays: Scans thousands of single nucleotide polymorphisms genome-wide to identify aneuploidies and structural changes.
  • Whole Genome Sequencing (WGS): Provides a comprehensive view of the genome, enabling detection of all types of chromosomal abnormalities, including previously undetectable ones.

Applications in Domestic Animals

  • The review focuses on cattle, horses, pigs, dogs, and cats, highlighting these species due to their economic and companion value.
  • Large-population screening studies become feasible using cytogenomic approaches, improving prevalence data on chromosomal abnormalities.
  • Commonly identified abnormalities include:
    • Aneuploidies: Especially involving sex chromosomes, which can impact fertility and animal health.
    • Structural Rearrangements: Centric fusions and reciprocal translocations that may cause reproductive issues.
  • Early and accurate identification through these methods supports informed breeding decisions and improves animal population management.

Significance and Future Directions

  • The shift from classical cytogenetics to cytogenomics represents a paradigm shift, allowing higher-resolution, more precise diagnostics.
  • Modern molecular techniques facilitate non-invasive, rapid, and high-throughput screening, essential for large-scale breeding programs.
  • Such advancements enhance the understanding of genetic diversity and disease-associated chromosomal changes in domestic animals.
  • Ongoing technological improvements will likely expand applications, including personalized veterinary medicine and better genetic conservation strategies.

Cite This Article

APA
Switonski M, Szczerbal I, Nowacka-Woszuk J. (2025). From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals. J Appl Genet, 66(3), 661-673. https://doi.org/10.1007/s13353-025-00943-x

Publication

Journal of applied genetics
ISSN: 2190-3883
NlmUniqueID: 9514582
Country: England
Language: English
Volume: 66
Issue: 3
Pages: 661-673

Researcher Affiliations

Switonski, M
  • Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland. marek.switonski@up.poznan.pl.
Szczerbal, I
  • Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Nowacka-Woszuk, J
  • Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.

MeSH Terms

  • Animals
  • Animals, Domestic / genetics
  • Chromosome Aberrations / veterinary
  • Dogs
  • Cattle
  • Genomics / methods
  • Cats
  • Cytogenetics / methods
  • Cytogenetic Analysis
  • Horses
  • Breeding

Grant Funding

  • statutory fund (no. 506.534.05.00) / Faculty of Veterinary Medicine and Animal Science, Poznań University of Life Sciences

Conflict of Interest Statement

Declarations. Competing interests: The authors declare no competing interests.

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Citations

This article has been cited 2 times.
  1. Ryan CA, Berry DP, Bugno-Poniewierska M, Burke MK, Raudsepp T, Egan S, Doyle JL. Two Cases of Chromosome 27 Trisomy in Horses Detected Using Illumina BeadChip Genotyping. Animals (Basel) 2025 Jun 22;15(13).
    doi: 10.3390/ani15131842pubmed: 40646741google scholar: lookup
  2. Searle JB, Hughes JJ. Fertility Cost (or Sometimes a Lack of It) in Relation to Heterozygosity for Robertsonian Rearrangements in Mammals: A Review. Cytogenet Genome Res 2025;165(3-5):272-306.
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