Identification and bioinformatic functional analysis of novel and known polymorphisms in the myostatin gene of Ukrainian Carpathian Mountain sheep

Abstract

Abstract Myostatin (MSTN) is a well-established negative regulator of muscle growth and development in mammals. Genetic variations within MSTN are linked to differences in sheep musculature, particularly the double-muscle phenotype. This study represents the first comprehensive polymorphism analysis within intron 1 of the  MSTN in the Ukrainian Carpathian Mountain (UCM) sheep breed combining molecular and bioinformatic approaches. Sequencing data of samples from UCM sheep revealed eight previously reported single-nucleotide polymorphisms (c.373+241T>C, c.373+243G>A, c.373+246T>C, c.373+249T>C, c.373+259G>T, c.373+323C>T, c.373+563G>A, c.373+607G>A) and one novel polymorphism (c.373+283T>C). Bioinformatic analysis evaluated potential functional effects of these intronic polymorphisms, including changes in pre-mRNA stability, proximity to transcription factor binding sites, and possible pre-miRNA formation, using in silico approaches, including molecular dynamics simulations of predicted pre-miRNA structures. Predictions identified c.373+607G>A and the novel c.373+283T>C polymorphisms as potential candidates for further functional investigation and association studies. This study demonstrates the value of combining molecular genetic and bioinformatic approaches for characterizing intronic polymorphisms and supporting a deeper understanding of functional genetic variation in livestock.