title: A large insertion in intron 2 of the TYRP1 gene associated with American Palomino phenotype in American mink.
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 phenotype-commercially named Dawn-was 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.
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section of Genetics, Bioinformatics and Animal Breeding, Faculty of Health and Medical Sciences, University of Copenhagen, Groennegaardsvej 3, 1870, Frederiksberg C, Denmark.
authors.forename: Susanna
authors.initials: S
authors.lastname: Cirera
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section of Genetics, Bioinformatics and Animal Breeding, Faculty of Health and Medical Sciences, University of Copenhagen, Groennegaardsvej 3, 1870, Frederiksberg C, Denmark.|Department of Biology, Integrated Molecular Plant Physiology Research, University of Antwerp, 2020, Antwerp, Belgium.
authors.forename: Marios Nektarios
authors.initials: MN
authors.lastname: Markakis
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section of Genetics, Bioinformatics and Animal Breeding, Faculty of Health and Medical Sciences, University of Copenhagen, Groennegaardsvej 3, 1870, Frederiksberg C, Denmark.
authors.forename: Thea
authors.initials: T
authors.lastname: Kristiansen
authors.affiliation: Department of Biology, Integrated Molecular Plant Physiology Research, University of Antwerp, 2020, Antwerp, Belgium.
authors.forename: Kris
authors.initials: K
authors.lastname: Vissenberg
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section of Genetics, Bioinformatics and Animal Breeding, Faculty of Health and Medical Sciences, University of Copenhagen, Groennegaardsvej 3, 1870, Frederiksberg C, Denmark.
authors.forename: Merete
authors.initials: M
authors.lastname: Fredholm
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section of Genetics, Bioinformatics and Animal Breeding, Faculty of Health and Medical Sciences, University of Copenhagen, Groennegaardsvej 3, 1870, Frederiksberg C, Denmark.
authors.forename: Knud
authors.initials: K
authors.lastname: Christensen
authors.affiliation: Department of Veterinary Clinical and Animal Sciences, Section of Genetics, Bioinformatics and Animal Breeding, Faculty of Health and Medical Sciences, University of Copenhagen, Groennegaardsvej 3, 1870, Frederiksberg C, Denmark. ran@sund.ku.dk.
authors.forename: Razvan
authors.initials: R
authors.lastname: Anistoroaei
mesh_terms: D000818:Animals; D005091:Exons; D056426:Genetic Loci; D005819:Genetic Markers; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D007438:Introns; D008907:Mink / Q000235:genetics*; D016254:Mutagenesis, Insertional; D010088:Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype
chemical_list: D005819:Genetic Markers; D010088:Oxidoreductases; C064056:tyrosinase-related protein-1