Recent trends in the development of genetic markers for animal breeding increasingly focus on identifying causative polymorphisms, as their use as markers enhances the accuracy of linking genotype to phenotype. Bioinformatic analyses offer a valuable tool for assessing the impact of missense polymorphisms on the functional characteristics of the encoded proteins, allowing for the identification of those with the most substantial effects on protein structure and function. These polymorphisms hold promise as the most likely candidates for causative roles.

New bioinformatic approach is proposed to identifying causative polymorphisms in animal genomes. The influence of both known causative and candidate missense polymorphisms in key genes of pigs (MC4R, NR6A1, PRKAG3, RYR1, SYNGR2) and cows (ABCG2, DGAT1, GHR, MSTN) was assesed. Our study included an evaluation of the impact of these polymorphisms on protein function, considering the evolutionary and physicochemical properties of amino acids at polymorphic sites. Additionally, the influence of such polymorphisms on the stability of tertiary protein structures was assessed.
The comprehensive bioinformatic analysis used in this study enables the differentiation of polymorphisms into neutral, where both amino acids at the polymorphic site do not significantly affect the structure and function of the protein, and causative, where one of the amino acids significantly alters protein properties.

 

The project was supported by the National Academy of Agrarian Sciences of Ukraine (Grant registration number: 0123U102862). 

 

All protein structures with alternative amino acid variants at polymorphic sites, modeled in silico as part of this study, are presented below.