1. Testicular hypoplasia in Nellore Cattle: Genetic analysis and functional analysis of genome-wide association study results
- Author
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Thales de Lima Silva, Cedric Gondro, Pablo Augusto de Souza Fonseca, Delvan Alves da Silva, Giovana Vargas, Haroldo Henrique de Rezende Neves, Ivan Carvalho Filho, Caio de Souza Teixeira, Lucia Galvão de Albuquerque, and Roberto Carvalheiro
- Subjects
Food Animals ,Animal Science and Zoology ,General Medicine - Abstract
Characterized by the incomplete development of the germinal epithelium of the seminiferous tubules, Testicular hypoplasia (TH) leads to decreased sperm concentration, increased morphological changes in sperm and azoospermia. Economic losses resulting from the disposal of affected bulls reduce the efficiency of meat production systems. A genome-wide association study and functional analysis were performed to identify genomic windows and the underlying positional candidate genes associated with TH in Nellore cattle. Phenotypic and pedigree data from 207,195 animals and genotypes (461,057 single nucleotide polymorphism, SNP) from 17,326 sires were used in this study. TH was evaluated as a binary trait measured at 18 months of age. A possible correlated response on TH resulting from the selection for scrotal circumference was evaluated by using a two-trait analysis. Thus, estimated breeding values were calculated by fitting a linear-threshold animal model in a Bayesian approach. The SNP effects were estimated using the weighted single-step genomic BLUP method. Twelve non-overlapping windows of 20 adjacent SNP that explained more than 1% of the additive genetic variance were selected for candidate gene annotation. Functional and gene prioritization analysis of the candidate genes identified genes (KHDRBS3, GPX5, STAR, ERLIN2), which might play an important role in the expression of TH due to their known roles in the spermatogenesis process, synthesis of steroids and lipid metabolism.
- Published
- 2022