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Genomic screening of allelic and genotypic transmission ratio distortion in horse

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 af...

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Autores principales: Laseca, Nora, Cánovas, Ángela, Valera, Mercedes, Id-Lahoucine, Samir, Perdomo-González, Davinia I., Fonseca, Pablo A. S., Demyda-Peyrás, Sebastián, Molina, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411798/
https://www.ncbi.nlm.nih.gov/pubmed/37556504
http://dx.doi.org/10.1371/journal.pone.0289066
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author Laseca, Nora
Cánovas, Ángela
Valera, Mercedes
Id-Lahoucine, Samir
Perdomo-González, Davinia I.
Fonseca, Pablo A. S.
Demyda-Peyrás, Sebastián
Molina, Antonio
author_facet Laseca, Nora
Cánovas, Ángela
Valera, Mercedes
Id-Lahoucine, Samir
Perdomo-González, Davinia I.
Fonseca, Pablo A. S.
Demyda-Peyrás, Sebastián
Molina, Antonio
author_sort Laseca, Nora
collection PubMed
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.
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spelling pubmed-104117982023-08-10 Genomic screening of allelic and genotypic transmission ratio distortion in horse Laseca, Nora Cánovas, Ángela Valera, Mercedes Id-Lahoucine, Samir Perdomo-González, Davinia I. Fonseca, Pablo A. S. Demyda-Peyrás, Sebastián Molina, Antonio PLoS One Research Article 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. Public Library of Science 2023-08-09 /pmc/articles/PMC10411798/ /pubmed/37556504 http://dx.doi.org/10.1371/journal.pone.0289066 Text en © 2023 Laseca et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Laseca, Nora
Cánovas, Ángela
Valera, Mercedes
Id-Lahoucine, Samir
Perdomo-González, Davinia I.
Fonseca, Pablo A. S.
Demyda-Peyrás, Sebastián
Molina, Antonio
Genomic screening of allelic and genotypic transmission ratio distortion in horse
title 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_short Genomic screening of allelic and genotypic transmission ratio distortion in horse
title_sort genomic screening of allelic and genotypic transmission ratio distortion in horse
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411798/
https://www.ncbi.nlm.nih.gov/pubmed/37556504
http://dx.doi.org/10.1371/journal.pone.0289066
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