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

Autores
Demyda Peyrás, Sebastián; Laseca, Nora; Anaya, Gabriel; Kij Mitka, Barbara; Molina, Antonio; Karlau, Ayelen; Valera, Mercedes
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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.
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
Fil: Laseca, Nora. Universidad de Córdoba; España
Fil: Anaya, Gabriel. Universidad de Córdoba; España
Fil: Kij Mitka, Barbara. University of Agriculture in Krakow; Polonia
Fil: Molina, Antonio. Universidad de Córdoba; España
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
Fil: Valera, Mercedes. Universidad de Sevilla; España
Materia
CHROMOSOMAL ABNORMALITIES
CYTOGENETICS
GENOMIC
HORSE
PREVALENCE
SNP-ARRAY
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/223716
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/223716
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred HorsesDemyda Peyrás, SebastiánLaseca, NoraAnaya, GabrielKij Mitka, BarbaraMolina, AntonioKarlau, AyelenValera, MercedesCHROMOSOMAL ABNORMALITIESCYTOGENETICSGENOMICHORSEPREVALENCESNP-ARRAYhttps://purl.org/becyt/ford/4.3https://purl.org/becyt/ford/4Chromosomal 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.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; ArgentinaFil: Laseca, Nora. Universidad de Córdoba; EspañaFil: Anaya, Gabriel. Universidad de Córdoba; EspañaFil: Kij Mitka, Barbara. University of Agriculture in Krakow; PoloniaFil: Molina, Antonio. Universidad de Córdoba; EspañaFil: 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; ArgentinaFil: Valera, Mercedes. Universidad de Sevilla; EspañaMultidisciplinary Digital Publishing Institute2023-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/223716Demyda 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; 1-92076-2615CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2076-2615/13/3/539info:eu-repo/semantics/altIdentifier/doi/10.3390/ani13030539info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:19:28Zoai:ri.conicet.gov.ar:11336/223716instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:19:28.39CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
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
CYTOGENETICS
GENOMIC
HORSE
PREVALENCE
SNP-ARRAY
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, Ayelen
Valera, Mercedes
author Demyda Peyrás, Sebastián
author_facet Demyda Peyrás, Sebastián
Laseca, Nora
Anaya, Gabriel
Kij Mitka, Barbara
Molina, Antonio
Karlau, Ayelen
Valera, Mercedes
author_role author
author2 Laseca, Nora
Anaya, Gabriel
Kij Mitka, Barbara
Molina, Antonio
Karlau, Ayelen
Valera, Mercedes
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv CHROMOSOMAL ABNORMALITIES
CYTOGENETICS
GENOMIC
HORSE
PREVALENCE
SNP-ARRAY
topic CHROMOSOMAL ABNORMALITIES
CYTOGENETICS
GENOMIC
HORSE
PREVALENCE
SNP-ARRAY
purl_subject.fl_str_mv https://purl.org/becyt/ford/4.3
https://purl.org/becyt/ford/4
dc.description.none.fl_txt_mv 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.
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
Fil: Laseca, Nora. Universidad de Córdoba; España
Fil: Anaya, Gabriel. Universidad de Córdoba; España
Fil: Kij Mitka, Barbara. University of Agriculture in Krakow; Polonia
Fil: Molina, Antonio. Universidad de Córdoba; España
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
Fil: Valera, Mercedes. Universidad de Sevilla; España
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 2023-02
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/223716
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
2076-2615
CONICET Digital
CONICET
url http://hdl.handle.net/11336/223716
identifier_str_mv 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
2076-2615
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2076-2615/13/3/539
info:eu-repo/semantics/altIdentifier/doi/10.3390/ani13030539
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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