Advances in the Cytogenetics of Livestock

A special issue of Animals (ISSN 2076-2615). This special issue belongs to the section "Animal Genetics and Genomics".

Deadline for manuscript submissions: 30 September 2025 | Viewed by 1896

Special Issue Editor


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Guest Editor
Institute of Animal Science and Fisheries, Siedlce of University, 14 Prusa St., 08-110 Siedlce, Poland
Interests: animal genetics; cytogenetics; karyotype; mitotic and meiotic chromosomes; genome stability; genome integrity; animal breeding

Special Issue Information

Dear Colleagues,

Cytogenetics is a branch of genetics dealing with the study of chromosomes, their number and structure, and the mechanisms that they undergo. Cytogenetic techniques make it possible not only to observe chromosomes, but also to perform quantitative and qualitative assessments of the karyotype of a given animal species. In situ fluorescence hybridization, comparative genomic hybridization, flow cytometry, and other methods are currently used with great success. Many cytogenetic assays are used to identify damage to genetic material, such as mutations or genomic instability, including chromosomal instability. This branch of genetics has found application in a wide variety of biological and veterinary studies, as well as in studies on the breeding and improvement of livestock animals. Genome stability and integrity are extremely important factors influencing animal health and functioning. The karyotype analysis of farm animals via various genetic techniques will make it possible to broaden knowledge and present new scientific achievements. Cytogenetic assays and their results will enable the selection of animals for desired traits or the culling of animals with genomic instability, thus contributing to genetic progress in livestock.

Dr. Ewa Wójcik
Guest Editor

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Keywords

  • livestock
  • cytogenetic
  • karyotype
  • mitotic and meiotic chromosomes
  • chromosome stability
  • chromatin stability
  • genome stability
  • genome integrity
  • genetic techniques and assays

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Published Papers (1 paper)

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Research

14 pages, 1747 KiB  
Article
The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed
by Mercedes Valera, Ayelén Karlau, Gabriel Anaya, Monika Bugno-Poniewierska, Antonio Molina, Ana Encina, Pedro J. Azor and Sebastián Demyda-Peyrás
Animals 2024, 14(17), 2560; https://doi.org/10.3390/ani14172560 - 3 Sep 2024
Cited by 1 | Viewed by 1433
Abstract
Sex chromosomal abnormalities are a well-established cause of reproductive failure in domestic horses. Because of its difficult diagnosis, the Pura Raza Español breeding program established a routine screening for chromosomal abnormalities in all the horses prior to enrolling in the studbook. This genomic [...] Read more.
Sex chromosomal abnormalities are a well-established cause of reproductive failure in domestic horses. Because of its difficult diagnosis, the Pura Raza Español breeding program established a routine screening for chromosomal abnormalities in all the horses prior to enrolling in the studbook. This genomic procedure combines an initial assessment based on the results from Short Tandem Repeat (STR) parentage testing followed by a Single-Nucleotide Polymorphism (SNP) based copy number aberration (CNA) confirmative analysis in positive cases. Using this methodology, we identified five new individuals carrying a 65,XXY chromosomal number aberration (CNA) among 27,330 foals enrolled over the past two reproductive seasons. The animals were initially flagged as CNA candidates due to abnormal results in STR testing. Subsequent analysis genotyping using an STR sex-linked dedicated panel and a medium-density SNP array in ECAX and ECAY confirmed the diagnosis as 65,XXY carriers. Four cases (upon sample availability) underwent further analysis using in situ fluorescent hybridization with ECAX and ECAY probes, showing identical results. Phenotypic analysis revealed abnormal gonad development in one of the cases, showing that the remaining four had a normal reproductive morphology. To our knowledge, this represents the largest number of horses exhibiting the equine form of Klinefelter syndrome (65,XXY) reported to date. Our study highlights the importance of genomic screening in the accurate detection of chromosomal abnormalities in horses. Full article
(This article belongs to the Special Issue Advances in the Cytogenetics of Livestock)
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