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
- Autores
- Valera, Mercedes; Karlau, Ayelen; Anaya, Gabriel; Bugno Poniewierska, Monika; Molina, Antonio; Encina, Ana; Azor, Pedro J.; Demyda Peyrás, Sebastián
- Año de publicación
- 2024
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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.
Fil: Valera, Mercedes. Universidad de Sevilla; España
Fil: Karlau, Ayelen. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; Argentina
Fil: Anaya, Gabriel. Universidad de Córdoba; España
Fil: Bugno Poniewierska, Monika. No especifíca;
Fil: Molina, Antonio. Universidad de Córdoba; España
Fil: Encina, Ana. Universidad de Sevilla; España
Fil: Azor, Pedro J.. No especifíca;
Fil: Demyda Peyrás, Sebastián. Universidad de Córdoba; España. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina - Materia
-
CNA
CYTOGENETICS
EQUINE
GENOMIC CHROMOSOMAL SCREENING - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/257615
Ver los metadatos del registro completo
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network_name_str |
CONICET Digital (CONICET) |
spelling |
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 BreedValera, MercedesKarlau, AyelenAnaya, GabrielBugno Poniewierska, MonikaMolina, AntonioEncina, AnaAzor, Pedro J.Demyda Peyrás, SebastiánCNACYTOGENETICSEQUINEGENOMIC CHROMOSOMAL SCREENINGhttps://purl.org/becyt/ford/4.3https://purl.org/becyt/ford/4Sex 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.Fil: Valera, Mercedes. Universidad de Sevilla; EspañaFil: Karlau, Ayelen. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; ArgentinaFil: Anaya, Gabriel. Universidad de Córdoba; EspañaFil: Bugno Poniewierska, Monika. No especifíca;Fil: Molina, Antonio. Universidad de Córdoba; EspañaFil: Encina, Ana. Universidad de Sevilla; EspañaFil: Azor, Pedro J.. No especifíca;Fil: Demyda Peyrás, Sebastián. Universidad de Córdoba; España. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaMultidisciplinary Digital Publishing Institute2024-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/257615Valera, Mercedes; Karlau, Ayelen; Anaya, Gabriel; Bugno Poniewierska, Monika; Molina, Antonio; et al.; 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; Multidisciplinary Digital Publishing Institute; Animals; 14; 17; 9-2024; 1-142076-2615CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2076-2615/14/17/2560info:eu-repo/semantics/altIdentifier/doi/10.3390/ani14172560info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:17:56Zoai:ri.conicet.gov.ar:11336/257615instacron: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 10:17:57.209CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
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 |
title |
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 |
spellingShingle |
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 Valera, Mercedes CNA CYTOGENETICS EQUINE GENOMIC CHROMOSOMAL SCREENING |
title_short |
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 |
title_full |
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 |
title_fullStr |
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 |
title_full_unstemmed |
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 |
title_sort |
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 |
dc.creator.none.fl_str_mv |
Valera, Mercedes Karlau, Ayelen Anaya, Gabriel Bugno Poniewierska, Monika Molina, Antonio Encina, Ana Azor, Pedro J. Demyda Peyrás, Sebastián |
author |
Valera, Mercedes |
author_facet |
Valera, Mercedes Karlau, Ayelen Anaya, Gabriel Bugno Poniewierska, Monika Molina, Antonio Encina, Ana Azor, Pedro J. Demyda Peyrás, Sebastián |
author_role |
author |
author2 |
Karlau, Ayelen Anaya, Gabriel Bugno Poniewierska, Monika Molina, Antonio Encina, Ana Azor, Pedro J. Demyda Peyrás, Sebastián |
author2_role |
author author author author author author author |
dc.subject.none.fl_str_mv |
CNA CYTOGENETICS EQUINE GENOMIC CHROMOSOMAL SCREENING |
topic |
CNA CYTOGENETICS EQUINE GENOMIC CHROMOSOMAL SCREENING |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/4.3 https://purl.org/becyt/ford/4 |
dc.description.none.fl_txt_mv |
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. Fil: Valera, Mercedes. Universidad de Sevilla; España Fil: Karlau, Ayelen. Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; Argentina Fil: Anaya, Gabriel. Universidad de Córdoba; España Fil: Bugno Poniewierska, Monika. No especifíca; Fil: Molina, Antonio. Universidad de Córdoba; España Fil: Encina, Ana. Universidad de Sevilla; España Fil: Azor, Pedro J.. No especifíca; Fil: Demyda Peyrás, Sebastián. Universidad de Córdoba; España. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina |
description |
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. |
publishDate |
2024 |
dc.date.none.fl_str_mv |
2024-09 |
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/11336/257615 Valera, Mercedes; Karlau, Ayelen; Anaya, Gabriel; Bugno Poniewierska, Monika; Molina, Antonio; et al.; 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; Multidisciplinary Digital Publishing Institute; Animals; 14; 17; 9-2024; 1-14 2076-2615 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/257615 |
identifier_str_mv |
Valera, Mercedes; Karlau, Ayelen; Anaya, Gabriel; Bugno Poniewierska, Monika; Molina, Antonio; et al.; 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; Multidisciplinary Digital Publishing Institute; Animals; 14; 17; 9-2024; 1-14 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/2076-2615/14/17/2560 info:eu-repo/semantics/altIdentifier/doi/10.3390/ani14172560 |
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) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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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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1844614136349065216 |
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13.070432 |