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Gén DMRT3, jeho mutácie a variabilita pri rôznych plemenách koní
Vaňová, Veronika
The aim of work was to describe the "gait keeper" mutation in different horse breeds. Mutation is located on the DMRT3 gene, which is a transcription factor expressed in the dI6 subdivision of the spinal cord neurons and takes an essential part in the limbs movement coordination. Moreover, it has a major effect in the presentation of gaits. On the DMRT3, there is a nonsense mutation at nucleotide 22999655 position, where there is a single nucleotide polymorphism C>A. This mutation is caused by a premature stop codon at DMRT3_Ser301STOP, which gives rise to the truncated transcription factor. Phenotypic expression is showed in a lot of different types of alternative gaits in a huge number of horse breeds. There are three genotypes, connected to this mutation: homozygous A/A, heterozygous C/A and wild-type C/C. The horse breeds were classified according to frequency of A allele (%) as: gaited (<50%), some gaited (<50%), not gaited - wild type and horses bred for harness racing.
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