Distortion of Mendelian segregation across the Angus cattle genome uncovering regions affecting reproduction
Abstract Nowadays, the availability of genotyped trios (sire-dam-offspring) in the livestock industry enables the implementation of the transmission ratio distortion (TRD) approach to discover deleterious alleles in the genome. Various biological mechanisms at different stages of the reproductive cy...
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| Format: | Article |
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Nature Portfolio
2023-08-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-37710-z |
| _version_ | 1797453035373330432 |
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| author | S. Id-Lahoucine J. Casellas D. Lu M. Sargolzaei S. Miller A. Cánovas |
| author_facet | S. Id-Lahoucine J. Casellas D. Lu M. Sargolzaei S. Miller A. Cánovas |
| author_sort | S. Id-Lahoucine |
| collection | DOAJ |
| description | Abstract Nowadays, the availability of genotyped trios (sire-dam-offspring) in the livestock industry enables the implementation of the transmission ratio distortion (TRD) approach to discover deleterious alleles in the genome. Various biological mechanisms at different stages of the reproductive cycle such as gametogenesis, embryo development and postnatal viability can induce signals of TRD (i.e., deviation from Mendelian inheritance expectations). In this study, TRD was evaluated using both SNP-by-SNP and sliding windows of 2-, 4-, 7-, 10- and 20-SNP across 92,942 autosomal SNPs for 258,140 genotyped Angus cattle including 7,486 sires, 72,688 dams and 205,966 offspring. Transmission ratio distortion was characterized using allelic (specific- and unspecific-parent TRD) and genotypic parameterizations (additive- and dominance-TRD). Across the Angus autosomal chromosomes, 851 regions were clearly found with decisive evidence for TRD. Among these findings, 19 haplotypes with recessive patterns (potential lethality for homozygote individuals) and 52 regions with allelic patterns exhibiting complete or quasi-complete absence for homozygous individuals in addition to under-representation (potentially reduced viability) of the carrier (heterozygous) offspring were found. In addition, 64 (12) and 20 (4) regions showed significant influence on the trait heifer pregnancy at p-value < 0.05 (after chromosome-wise false discovery rate) and 0.01, respectively, reducing the pregnancy rate up to 15%, thus, supporting the biological importance of TRD phenomenon in reproduction. |
| first_indexed | 2024-03-09T15:17:09Z |
| format | Article |
| id | doaj.art-f9e7552d6d6a4d6c942408cf37239263 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-09T15:17:09Z |
| publishDate | 2023-08-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-f9e7552d6d6a4d6c942408cf372392632023-11-26T13:03:42ZengNature PortfolioScientific Reports2045-23222023-08-0113111010.1038/s41598-023-37710-zDistortion of Mendelian segregation across the Angus cattle genome uncovering regions affecting reproductionS. Id-Lahoucine0J. Casellas1D. Lu2M. Sargolzaei3S. Miller4A. Cánovas5Centre for Genetic Improvement of Livestock, Department of Animal Biosciences, University of GuelphDepartament de Ciència Animal i dels Aliments, Universitat Autònoma de BarcelonaAngus Genetics Inc.Centre for Genetic Improvement of Livestock, Department of Animal Biosciences, University of GuelphAGBU, a joint venture of NSW Department of Primary Industries and University of New EnglandCentre for Genetic Improvement of Livestock, Department of Animal Biosciences, University of GuelphAbstract Nowadays, the availability of genotyped trios (sire-dam-offspring) in the livestock industry enables the implementation of the transmission ratio distortion (TRD) approach to discover deleterious alleles in the genome. Various biological mechanisms at different stages of the reproductive cycle such as gametogenesis, embryo development and postnatal viability can induce signals of TRD (i.e., deviation from Mendelian inheritance expectations). In this study, TRD was evaluated using both SNP-by-SNP and sliding windows of 2-, 4-, 7-, 10- and 20-SNP across 92,942 autosomal SNPs for 258,140 genotyped Angus cattle including 7,486 sires, 72,688 dams and 205,966 offspring. Transmission ratio distortion was characterized using allelic (specific- and unspecific-parent TRD) and genotypic parameterizations (additive- and dominance-TRD). Across the Angus autosomal chromosomes, 851 regions were clearly found with decisive evidence for TRD. Among these findings, 19 haplotypes with recessive patterns (potential lethality for homozygote individuals) and 52 regions with allelic patterns exhibiting complete or quasi-complete absence for homozygous individuals in addition to under-representation (potentially reduced viability) of the carrier (heterozygous) offspring were found. In addition, 64 (12) and 20 (4) regions showed significant influence on the trait heifer pregnancy at p-value < 0.05 (after chromosome-wise false discovery rate) and 0.01, respectively, reducing the pregnancy rate up to 15%, thus, supporting the biological importance of TRD phenomenon in reproduction.https://doi.org/10.1038/s41598-023-37710-z |
| spellingShingle | S. Id-Lahoucine J. Casellas D. Lu M. Sargolzaei S. Miller A. Cánovas Distortion of Mendelian segregation across the Angus cattle genome uncovering regions affecting reproduction Scientific Reports |
| title | Distortion of Mendelian segregation across the Angus cattle genome uncovering regions affecting reproduction |
| title_full | Distortion of Mendelian segregation across the Angus cattle genome uncovering regions affecting reproduction |
| title_fullStr | Distortion of Mendelian segregation across the Angus cattle genome uncovering regions affecting reproduction |
| title_full_unstemmed | Distortion of Mendelian segregation across the Angus cattle genome uncovering regions affecting reproduction |
| title_short | Distortion of Mendelian segregation across the Angus cattle genome uncovering regions affecting reproduction |
| title_sort | distortion of mendelian segregation across the angus cattle genome uncovering regions affecting reproduction |
| url | https://doi.org/10.1038/s41598-023-37710-z |
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