TY - JOUR
T1 - A large insertion in intron 2 of the TYRP1 gene associated with American Palomino phenotype in American mink
AU - Cirera Salicio, Susanna
AU - Markakis, Marios Nektarios
AU - Kristiansen, Thea
AU - Vissenberg, Kris
AU - Fredholm, Merete
AU - Christensen, Knud Arnbjerg
AU - Anistoroaei, Razvan Marian
PY - 2016/4/1
Y1 - 2016/4/1
N2 - A number of American mink phenotypes display a range of brownish colours. One of these phenotypes, namely American Palomino (bPbP) (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 APTYRP1 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.
AB - A number of American mink phenotypes display a range of brownish colours. One of these phenotypes, namely American Palomino (bPbP) (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 APTYRP1 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.
U2 - 10.1007/s00335-016-9620-4
DO - 10.1007/s00335-016-9620-4
M3 - Journal article
C2 - 26886941
SN - 0938-8990
VL - 27
SP - 135
EP - 143
JO - Mammalian Genome
JF - Mammalian Genome
IS - 3
ER -