Describing variability in the tyrosinase (<i>TYR</i>) gene, the <i>albino</i> coat colour locus, in domestic and wild European rabbits
Creators: name: Utzeri, Valerio Joe
name: Ribani, Anisa
name: Schiavo, Giuseppina
name: Fontanesi, Luca
Publisher: name: Taylor & Francis
Year: 2021
Subjects: subject: Medicine
subject: Microbiology
subject: FOS: Biological sciences
subject: Genetics
subject: Molecular Biology
subject: Evolutionary Biology
subject: 59999 Environmental Sciences not elsewhere classified
subject: FOS: Earth and related environmental sciences
subject: 39999 Chemical Sciences not elsewhere classified
subject: FOS: Chemical sciences
subject: 69999 Biological Sciences not elsewhere classified
subject: Developmental Biology
subject: 110309 Infectious Diseases
subject: FOS: Health sciences
subject: Plant Biology

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