Peer-reviewed veterinary case report
Albinism in domestic cats linked to tyrosinase gene mutation
By Imes, D L et al.Ā·Published in Animal geneticsĀ·2006Ā·Department of Population Health and Reproduction, United StatesĀ·View original on PubMed ā
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Original publication title: Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.
- Species:
- cat
Plain-English summary
A study found that a specific gene mutation is responsible for albinism in domestic cats. Researchers looked at a pedigree of Oriental and Colourpoint Shorthair cats and discovered a deletion in the tyrosinase (TYR) gene that leads to the albino trait. This mutation causes a change in the gene that prevents normal pigment production, resulting in the cat's white fur and pink eyes. The findings help explain how different color patterns in cats are inherited, with albinism being a result of this particular genetic change.
People also search for: cat albinism gene mutation Ā· why is my cat white with pink eyes Ā· Oriental Shorthair color genetics
Abstract
Albino phenotypes are documented in a variety of species including the domestic cat. As albino phenotypes in other species are associated with tyrosinase (TYR) mutations, TYR was proposed as a candidate gene for albinism in cats. An Oriental and Colourpoint Shorthair cat pedigree segregating for albinism was analysed for association with TYR by linkage and sequence analyses. Microsatellite FCA931, which is closely linked to TYR and TYR sequence variants were tested for segregation with the albinism phenotype. Sequence analysis of genomic DNA from wild-type and albino cats identified a cytosine deletion in TYR at position 975 in exon 2, which causes a frame shift resulting in a premature stop codon nine residues downstream from the mutation. The deletion mutation in TYR and an allele of FCA931 segregated concordantly with the albino phenotype. Taken together, our results suggest that the TYR gene corresponds to the colour locus in cats and its alleles, from dominant to recessive, are as follows: C (full colour) > c(b) (burmese) > or = c(s) (siamese) > c (albino).
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Search related cases āOriginal publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/16573534/