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dc.contributor.author
Demyda Peyrás, Sebastián
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dc.contributor.author
Laseca, Nora
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dc.contributor.author
Anaya, Gabriel
dc.contributor.author
Kij Mitka, Barbara
dc.contributor.author
Molina, Antonio
dc.contributor.author
Karlau, Ayelen
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dc.contributor.author
Valera, Mercedes
dc.date.available
2024-01-16T12:49:20Z
dc.date.issued
2023-02
dc.identifier.citation
Demyda Peyrás, Sebastián; Laseca, Nora; Anaya, Gabriel; Kij Mitka, Barbara; Molina, Antonio; et al.; Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses; Multidisciplinary Digital Publishing Institute; Animals; 13; 3; 2-2023; 1-9
dc.identifier.issn
2076-2615
dc.identifier.uri
http://hdl.handle.net/11336/223716
dc.description.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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Multidisciplinary Digital Publishing Institute
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
CHROMOSOMAL ABNORMALITIES
dc.subject
CYTOGENETICS
dc.subject
GENOMIC
dc.subject
HORSE
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PREVALENCE
dc.subject
SNP-ARRAY
dc.subject.classification
Ciencias Veterinarias
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dc.subject.classification
Ciencias Veterinarias
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dc.subject.classification
CIENCIAS AGRÍCOLAS
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dc.title
Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2024-01-16T10:53:05Z
dc.journal.volume
13
dc.journal.number
3
dc.journal.pagination
1-9
dc.journal.pais
Suiza
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dc.description.fil
Fil: Demyda Peyrás, Sebastián. Catedra de Genetica de Poblaciones y Mejoramiento Animal ; Departamento de Produccion Animal ; Facultad de Cs.veterinarias ; Universidad Nacional de la Plata; . Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Laseca, Nora. Universidad de Córdoba; España
dc.description.fil
Fil: Anaya, Gabriel. Universidad de Córdoba; España
dc.description.fil
Fil: Kij Mitka, Barbara. University of Agriculture in Krakow; Polonia
dc.description.fil
Fil: Molina, Antonio. Universidad de Córdoba; España
dc.description.fil
Fil: Karlau, Ayelen. Catedra de Genetica de Poblaciones y Mejoramiento Animal ; Departamento de Produccion Animal ; Facultad de Cs.veterinarias ; Universidad Nacional de la Plata; . Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Valera, Mercedes. Universidad de Sevilla; España
dc.journal.title
Animals
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2076-2615/13/3/539
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.3390/ani13030539
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