A large insertion in intron 2 of the TYRP1 gene associated with **American Palomino** phenotype in American mink
Markakis, Marios Nektarios
Faculty of Sciences. Biology
Engineering sciences. Technology
Mammalian genome. - New York
, p. 135-143
University of Antwerp
A number of American mink phenotypes display a range of brownish colours. One of these phenotypes, namely American Palomino (b P b P ) (AP) has been found to be associated with the tyrosinase-related protein 1 (TYRP1) gene by genotyping microsatellite markers in one sire family. Trials for amplifying the genomic DNA and cDNA at the beginning of intron 2 of AP TYRP1 revealed the presence of a large insertion of approximately eight kb. The insertion most likely disrupts different elements necessary for the splicing of intron 2 of the TYRP1 gene. In AP RNAseq data indicate, however, the presence of the wild-type (wt) transcript at very low levels and Western blot reveals three products when using an antibody raised against middle part of the TYRP1 protein. One individual from another brown mink phenotypecommercially named Dawnwas also investigated at the molecular level by long-range PCR and the same size insertion appears to be present. By this we suggest that certain modifiers of TYRP1 would induce different brown colour degradation, which results in at least two different phases of brown.