Describing variability in the tyrosinase (<i>TYR</i>) gene, the <i>albino</i> coat colour locus, in domestic and wild European rabbits

Disrupting mutations affecting the tyrosinase (TYR) gene cause different forms of albinism in mice, humans and several other mammals. Classical genetic studies have already reported five alleles at European rabbit Albino locus, indicated to be part C series, each them with actions on pheomelanin eumelanin production, as well eye colour. A few these been characterised DNA level by sequencing coding region TYR breeds or strains specific this locus. In study, we further all flanking regions a total 25 rabbits from 11 domestic (Belgian Hare, Burgundy Fawn, Californian, Champagne d’Argent, Giant Chinchilla, Grey, Havana, Leprino di Viterbo, New Zealand White, Silver White Vienna) wild Sardinia. Sequencing data identified 15 polymorphisms. We confirmed missense detected authors, three which associated coat colour phenotypes: p.T373K determining albino allele; p.E294G causing Himalayan chinchilla alleles; p.T358I observed only Chinchilla rabbits. addition seven synonymous one polymorphism 3’-untranslated region, two novel were (p.T144S p.K224T, latest was rabbits). This study contributed disclose variability effects colours mutations.HighlightsMutations locus mammals.The sequenced population.Fifteen single nucleotide polymorphisms (SNPs) identified: mutations.In silico analyses information available predicted some SNPs colour.This gene.