RT info:eu-repo/semantics/article T1 Genetic mechanisms underlying spermatic and testicular traits within and among cattle breeds: systematic review and prioritization of GWAS results1 A1 De Souza Fonseca, Pablo Augusto A1 Dos Santos, Fernanda Caroline A1 Lam, Stephanie A1 Suárez Vega, Aroa A1 Miglior, Filippo A1 Schenkel, Flavio S. A1 Almeida Ferreira Diniz, Luiza de A1 Id-Lahoucine, Samir A1 Santos Carvalho, Maria Raquel A1 Cánovas, Ángela A2 Producción Animal K1 Genética K1 Fertility K1 Functional candidates K1 Genome-wide association studies K1 Prioritization K1 Sperm K1 Testis K1 3109 Ciencias Veterinarias K1 3109.02 Genética AB [EN] Reduced bull fertility imposes economic losses in bovine herds. Specifically, testicular and spermatic traits are important indicators of reproductive efficiency. Several genome-wide association studies (GWAS) have identified genomic regions associated with these fertility traits. The aims of this study were as follows: 1) to perform a systematic review of GWAS results for spermatic and testicular traits in cattle and 2) to identify key functional candidate genes for these traits. The identification of functional candidate genes was performed using a systems biology approach, where genes shared between traits and studies were evaluated by a guilt by association gene prioritization (GUILDify and ToppGene software) in order to identify the best functional candidates. These candidate genes were integrated and analyzed breeds. Results showed that GWAS for testicular-related traits have been developed for beef breeds only, whereas the majority of GWAS for spermatic-related traits were conducted using dairy breeds. comparing traits measured within the same study, the highest number of genes shared between different traits was observed, indicating a high impact of the population genetic structure and environmental effects. Several chromosomal regions were enriched for functional candidate genes associated with fertility traits. Moreover, multiple functional candidate genes were enriched for markers in a species-specific basis, taurine (Bos taurus) or indicine (Bos indicus). For the different candidate regions identified in the GWAS in the literature, functional candidate genes were detected as follows: B. Taurus chromosome X (BTX) (TEX11, IRAK, CDK16, ATP7A, ATRX, HDAC6, FMR1, L1CAM, MECP2, etc.), BTA17 (TRPV4 and DYNLL1), and BTA14 (MOS, FABP5, ZFPM2). These genes are responsible for regulating metabolic pathways or biological processes associated with fertility, such as progression of spermatogenesis, control of ciliary activity, development of Sertoli cells, DNA integrity in spermatozoa, and homeostasis of testicular cells. This study represents the first systematic review on male fertility traits in cattle using a system biology approach to identify key candidate genes for these traits. PB Oxford Academic SN 1525-3163 LK https://hdl.handle.net/10612/17925 UL https://hdl.handle.net/10612/17925 NO Fonseca, P. A. d. S., dos Santos, F. C., Lam, S., Suárez-Vega, A., Miglior, F., Schenkel, F. S., Diniz, L. d. A. F., Id-Lahoucine, S., Carvalho, M. R. S., & Cánovas, A. (2018). Genetic mechanisms underlying spermatic and testicular traits within and among cattle breeds: Systematic review and prioritization of GWAS results. Journal of Animal Science, 96(12), 4978-4999. https://doi.org/10.1093/JAS/SKY382 DS BULERIA. Repositorio Institucional de la Universidad de León RD Jul 11, 2024