A large insertion in intron 2 of the TYRP1 gene associated with American Palomino phenotype in American mink

Susanna Cirera Salicio, Marios Nektarios Markakis, Thea Kristiansen, Kris Vissenberg, Merete Fredholm, Knud Arnbjerg Christensen, Razvan Marian Anistoroaei

    9 Citationer (Scopus)

    Abstract

    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 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 wildtype
    (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.
    OriginalsprogEngelsk
    TidsskriftMammalian Genome
    Vol/bind27
    Udgave nummer3
    Sider (fra-til)135-143
    Antal sider9
    ISSN0938-8990
    DOI
    StatusUdgivet - 1 apr. 2016

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