Genetic characterization of the Prion Protein Gene in the indigenous Nguni cattle breed of the Kingdom of Eswatini.

Bovine spongiform encephalopathy (BSE) is one of several fatal neurodegenerative diseases caused by misfolded, infectious prion proteins. Polymorphisms in the prion protein gene (PRNP) associated with BSE susceptibility have been reported in various cattle breeds. However, no studies have been conducted to investigate these genetic variations in the Nguni cattle breed, an indigenous breed in the Kingdom of Eswatini, Southern Africa. The present study aimed to genetically characterize the PRNP gene in Nguni cattle. Both the coding region and regulatory elements-specifically the promoter and intron 1 regions-were analyzed. Three synonymous polymorphisms were identified: Q78Q, P113P, and I226I. Additionally, the Nguni breed exhibited a higher frequency of deletion alleles in two known insertion/deletion (indel) polymorphisms: a 23-bp deletion in the promoter region and a 12-bp deletion in intron 1, compared to insertion alleles. These findings suggest that Nguni cattle may be genetically susceptible to BSE. The results underscore the importance of implementing selective breeding strategies aimed at enhancing resistance to BSE within this indigenous cattle population.