Bioinformatic analysis of the effect of SNPs in the pig TERT gene on the structural and functional characteristics of the enzyme to develop new genetic markers of productivity traits

Background: Telomerase reverse transcriptase (TERT) is responsible for synthesizing telomeric repeats that protect chromosomes from destruction and prevent their fusion, which is critically important for maintaining the stability of the genome. In some cases, mutations in the TERT gene can lead to a deviation in gene expression, impaired enzyme activity, and, as a result, an abnormal shortening of the telomere length. Based on the TERT gene polymorphism, genetic markers of productivity traits of livestock species related to their health, productive life expectancy, resistance to stress and environmental factors can be developed for use in marker-associated selection (MAS). In this study, we propose a bioinformatics-based approach to evaluate the effect of missense SNPs in the pig TERT gene on the function and structure of the enzyme with the prospect of developing genetic markers. Results A comparative analysis of the coding and amino acid sequences of the pig TERT was performed with corresponding sequences of other species. The high level of identity found between these sequences of human and pig TERT (77.7% and 71.8%, respectively) made it possible to establish the distribution of polymorphisms in the pig TERT gene in terms of structural-functional domains of the enzyme. A three-dimensional model of the pig TERT structure was obtained by homological modeling based on the human TERT structure. The potential impact of each of the 23 missense SNPs in the pig TERT gene on telomerase function and stability was assessed using predictive bioinformatics tools based on data on the amino acid sequence and structure of pig TERT. Conclusions According to bioinformatics analysis of 23 missense SNPs of the pig TERT gene, a predictive effect of SNPs rs789641834 (TEN domain), rs706045634 (TEN domain), rs325294961 (TRBD domain) and rs705602819 (RTD domain) on the structural and functional parameters of the enzyme were established. These SNPs can be considered potential genetic markers of productivity traits associated with pig health, stress tolerance and farming duration. The possibility of their application in MAS should be evaluated in association studies.