Fachbereich Veterinärmedizin



    A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle (2011)

    Zeitschriftenartikel / wissenschaftlicher Beitrag
    Philipp, Ute
    Lupp, Bettina
    Mömke, Stefanie
    Stein, Veronika
    Tipold, Andrea
    Eule, Johanna Corinna
    Rehage, Jürgen
    Distl, Ottmar
    PLoS one; 6(12) — S. e28857
    ISSN: 1932-6203
    URL (Volltext): http://edocs.fu-berlin.de/docs/receive/FUDOCS_document_000000017461
    DOI: 10.1371/journal.pone.0028857
    Pubmed: 22174915
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    Abstract / Zusammenfassung

    A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome). This syndrome has been mapped to bovine chromosome (BTA) 22 using a genome-wide association study with the bovine high density single nucleotide polymorphism array. An R210I missense mutation has been identified within microphthalmia-associated transcription factor (MITF) as responsible for this syndrome. The mutation is located in the highly conserved basic region of the protein and causes a negative-dominant effect. SOX10 and PAX3 promoter binding site mutations in MITF could be ruled out as causative for the German White Fleckvieh syndrome. Molecular characterization of this newly detected bovine syndrome means a large animal model is now available for the Tietz syndrome in humans.