IN SILICO PROSPECTION OF GENOMIC VARIANTS ASSOCIATED WITH FERTILITY IN EQUUS CABALLUS
DOI:
https://doi.org/10.47820/recima21.v7i1.7155Keywords:
Equine; Fertility; GenomicsAbstract
The genetic architecture of reproductive traits in Equus caballus is intrinsically complex, representing a significant challenge for the efficiency and sustainability of equine husbandry. Understanding the genetic mechanisms underlying fertility is crucial for developing effective genetic improvement strategies. This study aimed to in silico prospect and functionally characterize genomic variants associated with fertility in mares and stallions. To this end, variants associated with fertility traits in males and females were extracted from the Horse QTL database. After screening, all variants were subjected to functional analyses using the Variant Effect Predictor (VEP) and subsequent biological network analysis using GeneMANIA. The in silico methodology employed the analysis of public genomic data from next-generation sequencing (NGS), allowing for efficient screening of Quantitative Trait Loci (QTL) and the identification of Single Nucleotide Polymorphisms (SNPs) of interest, which were subsequently subjected to functional characterization. For stallions, the prospection revealed a predominance of intronic variants in genes such as DNAH7, KIF16B, MOB3B, and NOTCH1, and downstream_gene_variant variants in SLC39A10. In mares, the analysis identified a prevalence of intronic variants in genes such as GRAMD1B, SLC6A5, WASHC5, EXOC3L2, RNF17, FGF9, SGCG, and RCAN2, in addition to variants in regulatory regions such as upstream_gene_variant (SPATA18, LSM2/HSPA1A), downstream_gene_variant (SH3TC1), and 5_prime_UTR_variant (AMDHD2). Functional analysis using the Database for Annotation, Visualization, and Integrated Discovery (DAVID) and GeneMANIA elucidated protein interaction networks and relevant biological pathways, highlighting sperm biogenesis, embryonic development, and pregnancy maintenance.
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