Discovering lethal alleles across the turkey genome using a transmission ratio distortion approach
Abdalla, E. A. (University of Guelph)
Id-Lahoucine, Samir (University of Guelph)
Cánovas, Angela (University of Guelph)
Casellas Vidal, Joaquim (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments)
Schenkel, Flavio S (University of Guelph)
Wood, B. J. (University of Queensland)
Baes, Christine F (University of Bern)

Data:	2020
Resum:	Deviation from Mendelian inheritance expectations (transmission ratio distortion, TRD) has been observed in several species, including the mouse and humans. In this study, TRD was characterized in the turkey genome using both allelic (specific- and unspecific-parent TRD) and genotypic (additive- and dominance-TRD) parameterizations within a Bayesian framework. In this study, we evaluated TRD for 23 243 genotyped Turkeys across 56 393 autosomal SNPs. The analyses included 500 sires, 2013 dams and 11 047 offspring (trios). Three different haplotype sliding windows of 4, 10 and 20 SNPs were used across the autosomal chromosomes. Based on the genotypic parameterizations, 14 haplotypes showed additive and dominance TRD effects highlighting regions with a recessive TRD pattern. In contrast, the allelic model uncovered 12 haplotype alleles with the allelic TRD pattern which showed an underrepresentation of heterozygous offspring in addition to the absence of homozygous animals. For regions with the allelic pattern, only one particular region showed a parent-specific TRD where the penetrance was high via the dam, but low via the sire. The gene set analysis uncovered several gene ontology functional terms, Reactome pathways and several Medical Subject Headings that showed significant enrichment of genes associated with TRD. Many of these gene ontology functional terms (e. g. mitotic spindle assembly checkpoint, DRM complex and Aneuploidy), Reactome pathways (e. g. Mismatch repair) and Medical Subject Headings (e. g. Adenosine monophosphate) are known to be related to fertility, embryo development and lethality. The results of this study revealed potential novel candidate lethal haplotypes, functional terms and pathways that may enhance breeding programs in Turkeys through reducing mortality and improving reproduction rate.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Fertility ; Functional analysis ; Gene set enrichment ; Lethal haplotypes ; Transmission ratio distortion
Publicat a:	Animal Genetics, Vol. 51 (october 2020) , p. 876-889, ISSN 1365-2052

DOI: 10.1111/age.13003
PMID: 33006154

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