Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation

Abstract

SummaryAlbino 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) P c s (siamese) > c (albino).

Oculocutaneous Albinism in Suncus murinus: Establishment of a Strain and Identification of Its Responsible Gene

“…Tyr mutants have been identified in many animals including the mouse [2,23], rabbit [1], rat [3], cat [11], and ferret [4]. Mutations in Slc45a2 have been identified in an increasing number of animal species [9,10,26,27,33,37], and the phenotype of Slc45a2 varies from hypopigmentation as severe as that seen in OCA1 to some pigmentation with brown hair and eyes [13].…”

Génétique de la couleur et de la texture du pelage chez le chat domestique

“…Les chats uniformément blancs peuvent présenter des yeux bleus, des yeux or, verts ou impairs. Remarquons en effet que l'absence de pigmentation de l'oeil, chez le chat, ne se traduit pas par une couleur rouge des yeux, comme chez de nombreux mammifères albinos, mais par une couleur bleue très pâle (Imes et al 2006). La couleur blanche dominante est gouvernée par le locus W (White) qui possède deux allèles : W (white) dominant qui détermine le blanc et w récessif : l'allèle sauvage qui permet la pigmentation.…”

SNPs in the 5'-regulatory region of the tyrosinase gene do not affect plumage color in ducks (Anas platyrhynchos)

“…Non-synonymous SNPs occurring in coding regions result in single amino acid polymorphisms, which may affect protein function and lead to pathogenic phenotypes (Capriotti et al, 2011). Previous studies have shown that TYR mutations are associated with albinism in many vertebrates, including humans (Oetting, 2000), rats (Blaszczyk et al, 2005), cattle (Schmutz et al, 2004), cats (Imes et al, 2006), chickens (Liu et al, 2010), and geese (Wang et al, 2014). Peking ducks have a mutation in exon 1 of TYR, but whether this affects the color traits of duck feathers has not been determined.…”