Genomic screening of allelic and genotypic transmission ratio distortion in horse

Autores
Laseca, Nora; Cánovas, Ángela; Valera, Mercedes; Id Lahoucine, Samir; Perdomo González, Davinia Isabel; Fonseca, Pablo A. S.; Demyda-peyrás, Sebastian; Molina, Antonio
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The phenomenon in which the expected Mendelian inheritance is altered is known as transmission ratio distortion (TRD). The TRD analysis relies on the study of the transmission of one of the two alleles from a heterozygous parent to the offspring. These distortions are due to biological mechanisms affecting gametogenesis, embryo development and/or postnatal viability, among others. In this study, TRD phenomenon was characterized in horses using SNP-by-SNP model by TRDscan v.2.0 software. A total of 1,041 Pura Raza Español breed horses were genotyped with 554,634 SNPs. Among them, 277 horses genotyped in trios (stallion-mare-offspring) were used to perform the TRD analysis. Our results revealed 140 and 42 SNPs with allelic and genotypic patterns, respectively. Among them, 63 displayed stallion-TRD and 41 exhibited mare-TRD, while 36 SNPs showed overall TRD. In addition, 42 SNPs exhibited heterosis pattern. Functional analyses revealed that the annotated genes located within the TRD regions identified were associated with biological processes and molecular functions related to spermatogenesis, oocyte division, embryonic development, and hormonal activity. A total of 10 functional candidate genes related to fertility were found. To our knowledge, this is the most extensive study performed to evaluate the presence of alleles and functional candidate genes with transmission ratio distortion affecting reproductive performance in the domestic horse.
Fil: Laseca, Nora. Universidad de Córdoba; España
Fil: Cánovas, Ángela. University of Guelph; Canadá
Fil: Valera, Mercedes. Universidad de Sevilla; España
Fil: Id Lahoucine, Samir. Scotland’s Rural College; Reino Unido
Fil: Perdomo González, Davinia Isabel. Universidad de Sevilla; España
Fil: Fonseca, Pablo A. S.. Universidad de León; España
Fil: Demyda-peyrás, Sebastian. Universidad de Córdoba; España. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Molina, Antonio. Universidad de Córdoba; España
Materia
horse
genomics
TRD
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/221105

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network_name_str CONICET Digital (CONICET)
spelling Genomic screening of allelic and genotypic transmission ratio distortion in horseLaseca, NoraCánovas, ÁngelaValera, MercedesId Lahoucine, SamirPerdomo González, Davinia IsabelFonseca, Pablo A. S.Demyda-peyrás, SebastianMolina, AntoniohorsegenomicsTRDhttps://purl.org/becyt/ford/4.4https://purl.org/becyt/ford/4The phenomenon in which the expected Mendelian inheritance is altered is known as transmission ratio distortion (TRD). The TRD analysis relies on the study of the transmission of one of the two alleles from a heterozygous parent to the offspring. These distortions are due to biological mechanisms affecting gametogenesis, embryo development and/or postnatal viability, among others. In this study, TRD phenomenon was characterized in horses using SNP-by-SNP model by TRDscan v.2.0 software. A total of 1,041 Pura Raza Español breed horses were genotyped with 554,634 SNPs. Among them, 277 horses genotyped in trios (stallion-mare-offspring) were used to perform the TRD analysis. Our results revealed 140 and 42 SNPs with allelic and genotypic patterns, respectively. Among them, 63 displayed stallion-TRD and 41 exhibited mare-TRD, while 36 SNPs showed overall TRD. In addition, 42 SNPs exhibited heterosis pattern. Functional analyses revealed that the annotated genes located within the TRD regions identified were associated with biological processes and molecular functions related to spermatogenesis, oocyte division, embryonic development, and hormonal activity. A total of 10 functional candidate genes related to fertility were found. To our knowledge, this is the most extensive study performed to evaluate the presence of alleles and functional candidate genes with transmission ratio distortion affecting reproductive performance in the domestic horse.Fil: Laseca, Nora. Universidad de Córdoba; EspañaFil: Cánovas, Ángela. University of Guelph; CanadáFil: Valera, Mercedes. Universidad de Sevilla; EspañaFil: Id Lahoucine, Samir. Scotland’s Rural College; Reino UnidoFil: Perdomo González, Davinia Isabel. Universidad de Sevilla; EspañaFil: Fonseca, Pablo A. S.. Universidad de León; EspañaFil: Demyda-peyrás, Sebastian. Universidad de Córdoba; España. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Molina, Antonio. Universidad de Córdoba; EspañaPublic Library of Science2023-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/221105Laseca, Nora; Cánovas, Ángela; Valera, Mercedes; Id Lahoucine, Samir; Perdomo González, Davinia Isabel; et al.; Genomic screening of allelic and genotypic transmission ratio distortion in horse; Public Library of Science; Plos One; 18; 8-2023; 1-161932-6203CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0289066info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:45:48Zoai:ri.conicet.gov.ar:11336/221105instacron: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 10:45:48.579CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Genomic screening of allelic and genotypic transmission ratio distortion in horse
title Genomic screening of allelic and genotypic transmission ratio distortion in horse
spellingShingle Genomic screening of allelic and genotypic transmission ratio distortion in horse
Laseca, Nora
horse
genomics
TRD
title_short Genomic screening of allelic and genotypic transmission ratio distortion in horse
title_full Genomic screening of allelic and genotypic transmission ratio distortion in horse
title_fullStr Genomic screening of allelic and genotypic transmission ratio distortion in horse
title_full_unstemmed Genomic screening of allelic and genotypic transmission ratio distortion in horse
title_sort Genomic screening of allelic and genotypic transmission ratio distortion in horse
dc.creator.none.fl_str_mv Laseca, Nora
Cánovas, Ángela
Valera, Mercedes
Id Lahoucine, Samir
Perdomo González, Davinia Isabel
Fonseca, Pablo A. S.
Demyda-peyrás, Sebastian
Molina, Antonio
author Laseca, Nora
author_facet Laseca, Nora
Cánovas, Ángela
Valera, Mercedes
Id Lahoucine, Samir
Perdomo González, Davinia Isabel
Fonseca, Pablo A. S.
Demyda-peyrás, Sebastian
Molina, Antonio
author_role author
author2 Cánovas, Ángela
Valera, Mercedes
Id Lahoucine, Samir
Perdomo González, Davinia Isabel
Fonseca, Pablo A. S.
Demyda-peyrás, Sebastian
Molina, Antonio
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv horse
genomics
TRD
topic horse
genomics
TRD
purl_subject.fl_str_mv https://purl.org/becyt/ford/4.4
https://purl.org/becyt/ford/4
dc.description.none.fl_txt_mv The phenomenon in which the expected Mendelian inheritance is altered is known as transmission ratio distortion (TRD). The TRD analysis relies on the study of the transmission of one of the two alleles from a heterozygous parent to the offspring. These distortions are due to biological mechanisms affecting gametogenesis, embryo development and/or postnatal viability, among others. In this study, TRD phenomenon was characterized in horses using SNP-by-SNP model by TRDscan v.2.0 software. A total of 1,041 Pura Raza Español breed horses were genotyped with 554,634 SNPs. Among them, 277 horses genotyped in trios (stallion-mare-offspring) were used to perform the TRD analysis. Our results revealed 140 and 42 SNPs with allelic and genotypic patterns, respectively. Among them, 63 displayed stallion-TRD and 41 exhibited mare-TRD, while 36 SNPs showed overall TRD. In addition, 42 SNPs exhibited heterosis pattern. Functional analyses revealed that the annotated genes located within the TRD regions identified were associated with biological processes and molecular functions related to spermatogenesis, oocyte division, embryonic development, and hormonal activity. A total of 10 functional candidate genes related to fertility were found. To our knowledge, this is the most extensive study performed to evaluate the presence of alleles and functional candidate genes with transmission ratio distortion affecting reproductive performance in the domestic horse.
Fil: Laseca, Nora. Universidad de Córdoba; España
Fil: Cánovas, Ángela. University of Guelph; Canadá
Fil: Valera, Mercedes. Universidad de Sevilla; España
Fil: Id Lahoucine, Samir. Scotland’s Rural College; Reino Unido
Fil: Perdomo González, Davinia Isabel. Universidad de Sevilla; España
Fil: Fonseca, Pablo A. S.. Universidad de León; España
Fil: Demyda-peyrás, Sebastian. Universidad de Córdoba; España. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Molina, Antonio. Universidad de Córdoba; España
description The phenomenon in which the expected Mendelian inheritance is altered is known as transmission ratio distortion (TRD). The TRD analysis relies on the study of the transmission of one of the two alleles from a heterozygous parent to the offspring. These distortions are due to biological mechanisms affecting gametogenesis, embryo development and/or postnatal viability, among others. In this study, TRD phenomenon was characterized in horses using SNP-by-SNP model by TRDscan v.2.0 software. A total of 1,041 Pura Raza Español breed horses were genotyped with 554,634 SNPs. Among them, 277 horses genotyped in trios (stallion-mare-offspring) were used to perform the TRD analysis. Our results revealed 140 and 42 SNPs with allelic and genotypic patterns, respectively. Among them, 63 displayed stallion-TRD and 41 exhibited mare-TRD, while 36 SNPs showed overall TRD. In addition, 42 SNPs exhibited heterosis pattern. Functional analyses revealed that the annotated genes located within the TRD regions identified were associated with biological processes and molecular functions related to spermatogenesis, oocyte division, embryonic development, and hormonal activity. A total of 10 functional candidate genes related to fertility were found. To our knowledge, this is the most extensive study performed to evaluate the presence of alleles and functional candidate genes with transmission ratio distortion affecting reproductive performance in the domestic horse.
publishDate 2023
dc.date.none.fl_str_mv 2023-08
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/11336/221105
Laseca, Nora; Cánovas, Ángela; Valera, Mercedes; Id Lahoucine, Samir; Perdomo González, Davinia Isabel; et al.; Genomic screening of allelic and genotypic transmission ratio distortion in horse; Public Library of Science; Plos One; 18; 8-2023; 1-16
1932-6203
CONICET Digital
CONICET
url http://hdl.handle.net/11336/221105
identifier_str_mv Laseca, Nora; Cánovas, Ángela; Valera, Mercedes; Id Lahoucine, Samir; Perdomo González, Davinia Isabel; et al.; Genomic screening of allelic and genotypic transmission ratio distortion in horse; Public Library of Science; Plos One; 18; 8-2023; 1-16
1932-6203
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0289066
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Public Library of Science
publisher.none.fl_str_mv Public Library of Science
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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