Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses

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 pre...

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Autores: Demyda-Peyrás, Sebastián, Laseca, Nora, Anaya, Gabriel, Kij-Mitka, Barbara, Molina, Antonio, Karlau, Ayelén, Valera Córdoba, María Mercedes
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Universidad de Sevilla (US)
Repositorio:idUS. Depósito de Investigación de la Universidad de Sevilla
OAI Identifier:oai:dnet:idus________::b8b7836b217bd2be8a05bd0a215a82cc
Acceso en línea:https://hdl.handle.net/11441/186173
https://doi.org/10.3390/ani13030539
Access Level:acceso abierto
Palabra clave:Chromosomal abnormalities
Horse
Genomic
Prevalence
SNP-array
Cytogenetics
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spelling Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred HorsesDemyda-Peyrás, SebastiánLaseca, NoraAnaya, GabrielKij-Mitka, BarbaraMolina, AntonioKarlau, AyelénValera Córdoba, María MercedesChromosomal abnormalitiesHorseGenomicPrevalenceSNP-arrayCytogeneticsChromosomal 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.MDPIAgronomíaAGR273: Nuevas Tecnologías de Mejora Animal y de Sus Sistemas ProductivosUniversidad de CórdobaJunta de AndalucíaMinisterio de Economia, Industria y Competitividad (MINECO). España2023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://hdl.handle.net/11441/186173https://doi.org/10.3390/ani13030539reponame:idUS. Depósito de Investigación de la Universidad de Sevillainstname:Universidad de Sevilla (US)InglésAnimals, 13 (3). UCO-FEDER 20 REF. Becas 1380999-RAGL2017-84217-Phttps://doi.org/10.3390/ani13030539info:eu-repo/semantics/openAccessoai:dnet:idus________::b8b7836b217bd2be8a05bd0a215a82cc2026-06-17T12:51:07Z
dc.title.none.fl_str_mv Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
title Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
spellingShingle Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
Demyda-Peyrás, Sebastián
Chromosomal abnormalities
Horse
Genomic
Prevalence
SNP-array
Cytogenetics
title_short Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
title_full Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
title_fullStr Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
title_full_unstemmed Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
title_sort Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses
dc.creator.none.fl_str_mv Demyda-Peyrás, Sebastián
Laseca, Nora
Anaya, Gabriel
Kij-Mitka, Barbara
Molina, Antonio
Karlau, Ayelén
Valera Córdoba, María Mercedes
author Demyda-Peyrás, Sebastián
author_facet Demyda-Peyrás, Sebastián
Laseca, Nora
Anaya, Gabriel
Kij-Mitka, Barbara
Molina, Antonio
Karlau, Ayelén
Valera Córdoba, María Mercedes
author_role author
author2 Laseca, Nora
Anaya, Gabriel
Kij-Mitka, Barbara
Molina, Antonio
Karlau, Ayelén
Valera Córdoba, María Mercedes
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Agronomía
AGR273: Nuevas Tecnologías de Mejora Animal y de Sus Sistemas Productivos
Universidad de Córdoba
Junta de Andalucía
Ministerio de Economia, Industria y Competitividad (MINECO). España
dc.subject.none.fl_str_mv Chromosomal abnormalities
Horse
Genomic
Prevalence
SNP-array
Cytogenetics
topic Chromosomal abnormalities
Horse
Genomic
Prevalence
SNP-array
Cytogenetics
description 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.
publishDate 2023
dc.date.none.fl_str_mv 2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11441/186173
https://doi.org/10.3390/ani13030539
url https://hdl.handle.net/11441/186173
https://doi.org/10.3390/ani13030539
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Animals, 13 (3).
UCO-FEDER 20 REF. Becas 1380999-R
AGL2017-84217-P
https://doi.org/10.3390/ani13030539
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:idUS. Depósito de Investigación de la Universidad de Sevilla
instname:Universidad de Sevilla (US)
instname_str Universidad de Sevilla (US)
reponame_str idUS. Depósito de Investigación de la Universidad de Sevilla
collection idUS. Depósito de Investigación de la Universidad de Sevilla
repository.name.fl_str_mv
repository.mail.fl_str_mv
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