Identification of a new haplotype within the promoter region of the MSTN gene in horses from five of the most common breeds in Poland.

The study looks into the genetic variant of the promoter region for the MSTN gene in certain horse breeds in Poland, and identified a previously unknown genetic variant in the Polish Heavy Draft breed.

About the MSTN Gene

• The myostatin gene, also known as the GDF-8 or MSTN gene, is a gene that inhibits muscle growth and development. It is part of the TGF-β superfamily, which are proteins responsible for growth and cell differentiation.
• A specific sequence variant in this gene in Thoroughbred horses, g.66493737C>T, is associated with the optimal racing distance for these horses.

About the Study

• The researchers in this study examined the genetic polymorphism, or variation, of a predicted promoter of the MSTN gene. They did this across 451 horses belonging to five different breeds: Arabian, Thoroughbred, Polish Konik, Hucul, and Polish Heavy Draft.
• They identified two Single Nucleotide Polymorphisms (SNPs), which are variations in a single nucleotide that occurs at a specific position in the genome, at the locations g.66495826T>C and g.66495696T>C (chr;18 EquCab 2.0).

Results of the Study

• Three haplotypes, or groups of genes inherited from a single parent, were found in the horse breeds, with the exceptions of the Polish Heavy Draft.
• The previously described haplotypes, [g.66495826:T, g.66495696:T], [g.66495826:T, g.66495696:C], [g.66495826:C, g.66495696:T], had frequencies of 0.877, 0.101, and 0.005, respectively.
• However, the study also discovered a new haplotype in the Polish Heavy Draft breed, [g.6649582626:C, g.66495696:C], with a frequency of 0.016.