A mutation in the MATP gene causes the cream coat colour in the horse.

The research study identifies a single gene mutation that causes the cream coat color in horses.

Objective of Study

• The primary objective of this research was to identify the gene responsible for the dilution of basic coat colors in horses leading to cream colored coats.

Approach and Methodology

• Researchers used both candidate gene and positional cloning strategies to detect this variant, known as “cream mutation”.
• In the study a horse panel including various reference colors was created and typed for different genetic markers relevant to two candidate genes.

Results

• Results suggested that the mutation responsible for the dilution is a G to A transition located in exon 2 of the MATP gene.
• This mutation causes an aspartic acid to asparagine substitution in the protein encoded by the gene.
• The same mutation was also found in mice and human genomes but was absent in Medaka, a small fish used as a model organism in genetics.

Significance of the Findings

• The discovery of the mutation responsible for the cream coat in horses has important implications for our understanding of genetic control of coat color in mammals.
• This finding provides valuable insights for horse breeders, enabling them to make more informed breeding choices.
• Additionally, understanding these genetic mechanisms can contribute to human genetic research, especially because this mutation is also found in humans.