Genomic architecture of hereditary defects in beef cattle populations: from molecular diagnostics to innovative therapy approaches (review)

Abstract

The review article presents a comprehensive analysis of current data on hereditary anomalies in beef cattle breeds, including hypotrichosis (HY), dilutor (DL), idiopathic epilepsy (IE), mandibulofacial dysplasia (MD), and maple syrup urine disease (MSUD). The results of genomic studies that identified key mutations (in the KRT71, PMEL, CYP26C1, BCKDHA/BCKDHB genes) and their pleiotropic effects, impacting both phenotype and productive qualities of the animals, are summarized. Particular attention is paid to the differences in the prevalence of genetic defects in cattle across various countries, which is associated with the intensity of selection, the level of inbreeding, and the effectiveness of genetic monitoring programs. Using the example of the genetic anomaly causing maple syrup urine disease (MSUD) in animals, promising therapeutic strategies are considered—from conservative metabolic control to innovative approaches using AAV vector-based gene therapy and in vitro base editing. The commonality of molecular mechanisms of hereditary diseases in humans and farm animals is emphasized, opening opportunities for translational research. Recommendations are formulated for building a genetic health management system in beef cattle breeding, based on mandatory DNA testing, inbreeding control, accounting for pleiotropic effects in selection, and the integration of advanced biotechnologies. The work is of interest to specialists in the field of veterinary genetics, breeding, and biotechnology.