Leptin and leptin receptor genes of domestic animals in the context of phylogeny, polymorphism and molecular genotyping
Abstract
The leptin signaling system, involving LEP and LEPR genes, plays a central role in the regulation of energy balance, metabolism, reproduction, immunity, thermoregulation, and production traits in mammals. Despite their functional i m portance and general evolutionary conservation, the extent and distribution of genetic variation within these genes across domestic animal species remain insufficiently characterized. In this study, we integrated comparative phylogenetic analysis with variant annotation and development of molecular tools for genotyping LEP and LEPR polymorphisms. Phylogenetic trees reconstructed from coding sequences of both genes showed consistent clustering of closely related taxa, indicating the presence of a measurable phylogenetic signal in these loci. Analysis of Ensembl Variation data revealed pronounced diffe r ences in the number and distribution of variants among domestic animal species and humans. Across all analyzed species, intronic variants were predominant, while coding variants represented a smaller fraction of total variation. Among livestock species, cattle, sheep, and pigs harbored comparatively higher numbers of annotated missense and synonymous substitutions. A detailed structural characterization of porcine LEP and LEPR genes was performed, including exon-intron organization and transcript annotation, along with mapping of coding polymorphisms across functional gene regions. Based on these data, PCR-based genotyping systems were developed for all coding exons of both genes, including primer sets and restriction enzymes selected for PCR-RFLP analysis of specific allelic variants. The proposed assays enable cost-effective screening of both established and newly annotated polymorphisms and provide a practical framework for molecular genetic studies in pig breeding populations. The developed methodological platform may support future association studies aimed at identifying functionally relevant variants and integrating them into marker-assisted selection programs for economically important traits.References
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