Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses.
Abstract: Chromosomal abnormalities are largely associated with fertility impairments in the domestic horse. To date, over 600 cases of individuals carrying abnormal chromosome complements have been reported, making the domestic horse the species with the highest prevalence. However, studies analyzing the prevalence of chromosomal diseases in whole populations are scarce. We, therefore, employed a two-step molecular tool to screen and diagnose chromosomal abnormalities in a large population of 25,237 Pura Raza Español horses. Individuals were first screened using short tandem repeats parentage testing results and phenotypic evaluations. Those animals showing results suggesting chromosomal abnormalities were re-tested using a single nucleotide polymorphism (SNP)-based diagnostic methodology to accurately determine the chromosomal complements. Thirteen individuals showed a positive screening, all of which were diagnosed as chromosomally abnormal, including five 64,XY mares with sex development disorders (DSD) and four cases of blood chimerism (two male/female and two female/female cases). In addition, we detected one Turner and one Klinefelter syndrome and two individuals carrying complex karyotypes. The overall prevalence in the entire population was ~0.05%, with the prevalence of 64,XY DSD and blood chimerism ~0.02% and ~0.016%, respectively. However, the overall results should be taken with caution since the individuals carrying Turner syndrome (in full (63,X) or mosaic (mos 63,X/64,XX) forms) cannot be detected due to limitations in the methodology employed. Finally, the lack of agreement between populational studies performed using karyotyping or molecular methods is discussed. To our knowledge, this is the largest populational study performed evaluating the prevalence of the most common chromosomal abnormalities in the domestic horse.
Publication Date: 2023-02-03 PubMed ID: 36766428PubMed Central: PMC9913619DOI: 10.3390/ani13030539Google Scholar: Lookup
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Summary
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This research conducted a large-scale study on Spanish purebred horses to determine the prevalence of chromosomal abnormalities, which can affect fertility in domestic horses.
Introduction
The research explores the prevalence of chromosomal abnormalities in Spanish purebred horses, known as Pura Raza Español. Notably, domestic horses have the highest level of documented cases for these abnormalities amongst all species, with over 600 on record.
Methodology
The study utilized a two-step molecular tool, and it began with an initial screening of a population of 25,237 horses. The tests administered in the first stage consisted of:
- Parentage testing with short tandem repeats
- Phenotypic evaluations
For horses that displayed potential chromosomal abnormalities, a further test was administered using single nucleotide polymorphism based diagnostics.
Findings
The research culminated by identifying chromosomal abnormalities in thirteen cases. A breakdown of the abnormalities is as follows:
- Five cases of mares with sex development disorders (64,XY DSD),
- Four cases of blood chimerism (two male/female, and two female/female),
- One case each of Turner Syndrome and Klinefelter Syndrome, and
- Two cases where individuals carried complex karyotypes.
From the overall population evaluated, approximately 0.05% were found to have chromosomal irregularities. The disorders 64,XY DSD and blood chimerism had a prevalence of approximately 0.02% and 0.016% respectively.
Limitations and Conclusions
The researchers acknowledge certain limitations, notably the impossibility of detecting Turner syndrome (both fully formed and mosaic cases) due to the nature of the methodology. They also discussed the lack of consensus between population studies conducted using karyotyping or molecular methods. Despite this, the study stands as the largest to date examining the prevalence of common chromosomal abnormalities in domestic horses.
Cite This Article
APA
Demyda-Peyrás S, Laseca N, Anaya G, Kij-Mitka B, Molina A, Karlau A, Valera M.
(2023).
Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses.
Animals (Basel), 13(3), 539.
https://doi.org/10.3390/ani13030539 Publication
Researcher Affiliations
- Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata 1900, Argentina.
- Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET LA PLATA), La Plata 1900, Argentina.
- Departamento de Genética, Universidad de Córdoba, 14071 Córdoba, Spain.
- Departamento de Genética, Universidad de Córdoba, 14071 Córdoba, Spain.
- Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Krakow, Mickiewicza 24/28, 30-059 Krakow, Poland.
- Departamento de Genética, Universidad de Córdoba, 14071 Córdoba, Spain.
- Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata 1900, Argentina.
- Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET LA PLATA), La Plata 1900, Argentina.
- Departamento Agronomía, Escuela Técnica Superior de Ingeniería Agromómica, Universidad de Sevilla, Ctra Utrera Km 1, 41013 Sevilla, Spain.
Grant Funding
- PICT 2021-00063 / Agencia Nacional de Promociu00f3n Cientu00edfica y Tecnolu00f3gica
- 1380999-R / UCOFEDER
- AGL2017-84217-P / Ministry of Economy, Industry and Competitiveness
Conflict of Interest Statement
The authors declare no conflict of interest.
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