RGD Reference Report - A Tyrosinase missense mutation causes albinism in the Wistar rat. - Rat Genome Database

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A Tyrosinase missense mutation causes albinism in the Wistar rat.

Authors: Blaszczyk, WM  Arning, L  Hoffmann, KP  Epplen, JT 
Citation: Blaszczyk WM, etal., Pigment Cell Res. 2005 Apr;18(2):144-5.
RGD ID: 1599687
Pubmed: PMID:15760344   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1600-0749.2005.00227.x   (Journal Full-text)

Tyrosinase serves as a key enzyme in the synthesis of melanin. In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye. Various mutations causing OCA in man, mouse, rabbit and cattle have been identified throughout the Tyrosinase gene including nonsense, missense, frameshift and splice site alterations. Here we report a missense substitution at codon R299H in exon 2 of the Tyr gene in the albino Wistar rat. As this very exchange has already been described in OCA patients, our findings reinforce the significance of this region for normal catalytic activity of tyrosinase protein.

Disease Annotations    

Gene Ontology Annotations    

Biological Process
pigmentation  (IMP)

Phenotype Annotations    

Mammalian Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Tyr  (tyrosinase)

Genes (Mus musculus)
Tyr  (tyrosinase)

Genes (Homo sapiens)
TYR  (tyrosinase)

Additional Information