TY - JOUR
T1 - Genomic screening of allelic and genotypic transmission ratio distortion in horse
AU - Laseca, Nora
AU - Cánovas, Ángela
AU - Valera, Mercedes
AU - Id-Lahoucine, Samir
AU - Perdomo-González, Davinia I.
AU - Fonseca, Pablo A.S.
AU - Demyda-Peyrás, Sebastián
AU - Molina, Antonio
PY - 2023/8/9
Y1 - 2023/8/9
N2 - 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.
AB - 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.
KW - Horses/genetics
KW - Animals
KW - Male
KW - Female
KW - Alleles
KW - Inheritance Patterns
KW - Genotype
KW - Heterozygote
KW - Genomics
UR - http://www.scopus.com/inward/record.url?scp=85167530519&partnerID=8YFLogxK
UR - https://doi.org/10.17632/vyby8h4x9x.2
U2 - 10.1371/journal.pone.0289066
DO - 10.1371/journal.pone.0289066
M3 - Article
C2 - 37556504
AN - SCOPUS:85167530519
SN - 1932-6203
VL - 18
JO - PLoS ONE
JF - PLoS ONE
IS - 8
M1 - e0289066
ER -