title: A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.
abstract: 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.
authors.affiliation: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
authors.forename: Ute
authors.initials: U
authors.lastname: Philipp
authors.forename: Bettina
authors.initials: B
authors.lastname: Lupp
authors.forename: Stefanie
authors.initials: S
authors.lastname: Mömke
authors.forename: Veronika
authors.initials: V
authors.lastname: Stein
authors.forename: Andrea
authors.initials: A
authors.lastname: Tipold
authors.forename: Johanna Corinna
authors.initials: JC
authors.lastname: Eule
authors.forename: Jürgen
authors.initials: J
authors.lastname: Rehage
authors.forename: Ottmar
authors.initials: O
authors.lastname: Distl
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D002874:Chromosome Mapping; D003638:Deafness / Q000235:genetics / Q000662:veterinary*; D005091:Exons / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D016678:Genome / Q000235:genetics; D005858:Germany; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics*
chemical_list: D051739:Microphthalmia-Associated Transcription Factor