1. A large insertion in intron 2 of the TYRP1 gene associated with **American Palomino** phenotype in American mink
- Author
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Merete Fredholm, Knud Christensen, Marios Nektarios Markakis, R. Anistoroaei, Kris Vissenberg, Susanna Cirera, and Thea Kristiansen
- Subjects
0301 basic medicine ,Genetic Markers ,Genotype ,Veterinary medicine ,03 medical and health sciences ,Exon ,0302 clinical medicine ,biology.animal ,Complementary DNA ,Genetics ,Animals ,American mink ,Mink ,Gene ,Biology ,biology ,Intron ,High-Throughput Nucleotide Sequencing ,Exons ,biology.organism_classification ,Molecular biology ,Introns ,genomic DNA ,Mutagenesis, Insertional ,Chemistry ,030104 developmental biology ,Phenotype ,Genetic Loci ,Microsatellite ,Human medicine ,Oxidoreductases ,Engineering sciences. Technology ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2016