Structure and Variability of 5'UTR, Exon 1 and Fragment of Intron 1 of the Pax3 Gene in American Mink (Neovison vison)

Resumo

The expression product of the Pax3 gene is a transcription factor involved in the process of neural crest’s stem cell differentiation into melanocytes during embryonic development. In individual life, the Pax3 gene expression is an element of the complex process of regulation the degree of melanoblasts differentiation. The state of melanoblasts (being a reservoir of renewable cells) differentiation depends on UV radiation, which stimulates the Pax3 gene expression. In the absence of radiation the expression of the Pax3 gene is inhibited, what stops the melanoblasts at the current level of diversity. Pax3 gene is one of the candidate genes responsible for animals coat color and its mutations are considered a possible cause for the occurrence of the color patterns: “splashed white” and “white spotting” in Quarter Horse breed. The 5'UTR exon 1 and the intron fragment 1 of the Pax3 gene in the American mink were sequenced. Two variations were found: substitution c.-17G>A in the 5′ UTR and substitution c.+142C>G in intron 1. Investigations were carried out on 93 individuals, which were genotyped for polymorphisms in the 5'UTR region using the MTPA-PCR technique. It was established that the study group was in a state of genetic equilibrium, because there were no statistically significant differences between observed genotypes frequency and theoretically calculated according to the Hardy–Weinberg principle and it was found that there were no statistically significant relationship between the Pax3 gene polymorphism and the American mink coat color.