A Tyrosinase missense mutation causes albinism in the Wistar rat
W. Blaszczyk, L. Arning, K.-P. Hoffmann & J.T. Epplen
Pigment Cell Res. 18:144-145, 2005
- 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.
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