Publikationsdatenbank

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

Art

Zeitschriftenartikel / wissenschaftlicher Beitrag

Autoren

Philipp, Ute

Lupp, Bettina

Mömke, Stefanie

Stein, Veronika

Tipold, Andrea

Eule, Johanna Corinna

Rehage, Jürgen

Distl, Ottmar

Quelle

PLOS ONE

Bandzählung: 6

Heftzählung: 12

Seiten: e28857

ISSN: 1932-6203

Sprache

Englisch

Verweise

URL (Volltext): http://edocs.fu-berlin.de/docs/receive/FUDOCS_document_000000017461

DOI: 10.1371/journal.pone.0028857

Pubmed: 22174915

Kontakt

Klein- und Heimtierklinik

Oertzenweg 19 b
14163 Berlin
+49 30 838 62422
kleintierklinik@vetmed.fu-berlin.de

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.