Genes and Gene Functions Associated with Morphological, Productive, Reproductive, and Carcass Quality Traits in Pigs: A Functional Bioinformatics Approach

Abstract

Understanding the functional mechanisms of genes influencing economically important traits in the domestic pig is essential for optimizing marker-assisted selection (MAS). This study aimed to characterize the biological functions, molecular mechanisms, and metabolic pathways of genes associated with morphological, productive, reproductive, and carcass quality traits through a functional bioinformatics approach. Genes were compiled from 116 peer-reviewed studies published between 2000 and 2024, and subsequently grouped according to trait. A de novo functional bioinformatics analysis was performed on this dataset. Functional enrichment analysis was conducted using DAVID and the clusterProfiler package in R, applying FDR correction (≤0.05). Protein-protein interaction (PPI) networks were explored using STRING. No individual gene was consistently reported with high frequency. Among the most frequently reported genes were VRTN (17 studies) for teat number, HOMER1 (3 studies) for leg strength, and BMPR1B (3 studies) for litter size. Enriched GO terms included processes such as positive regulation of transcription (GO:0045944), chondrocyte differentiation (GO:0032331), and SMAD signaling (GO:0060391; an FDR = 7.34 × 10−7). The PPI networks revealed key genes involved in signaling and immune regulation. In conclusion, this bioinformatics analysis provides an integrated functional overview of the genes underlying key economic traits in pigs, identifying pleiotropic pathways such as SMAD/TGF-β signaling, which supports the development of more effective MAS strategies in pig breeding programs.