In other species: tiger

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 605236 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2021

Species-specific name: Sunshine

Species-specific symbol: wb^SIB

Inheritance: Beauvois et al. (2021): "Pedigree analyses revealed an autosomal recessive inheritance pattern" for the golden phenotype in Siberian cats.

Abitol et al. (2022): "Order of dominance was established as follow: Wb+ > wbeSIB > wbSIB"

Mapping: Beauvois et al. (2021): "A single candidate region was identified [on chromosome FCA B1] by genome-wide association study (GWAS) and homozygosity mapping. . . . This region contains a strong candidate gene, CORIN (Corin, serine peptidase, chromosome B1: 167 578 182–167 835 768 bp, Felis_catus 9.0) encoding a transmembrane serine protease, known to play a critical role in specifying coat color and acting as a suppressor of the ASIP pathway."

Molecular basis: Beauvois et al. (2021): "A homozygous CORIN:c.2383C>T missense variant was identified in sunshine tabby cats. Segregation of the variant was consistent with recessive inheritance. . . . The CORIN:c.2383C>T variant was predicted to change an arginine to a cysteine at position 795 in the protein: CORIN:p.(Arg795Cys). Finally, hair observation in Siberian cats was consistent with elongated ASIP signaling as golden hair showed a large yellow band instead of the short subapical one usually observed in agouti hair." Beauvois et al. (2021) proposed "that the CORIN:c.2383C>T variant represents the wb^SIB (Siberian recessive wideband) allele in the domestic cat".

Abitol et al. (2022; DOI: 10.1111/age.13215) "identified a second CORIN missense variant associated with the extreme-sunshine modification of Siberian cats. We propose that this CORIN:c.839G>A variant represents the wbeSIB (Siberian recessive extreme wideband) allele in the domestic cat."

Abitol et al. (2022; DOI: 10.1111/age.13228) "identified a third CORIN variant associated with the copper modification of British cats. We propose that this CORIN:c.2425C>T variant represents the wbBSH (British recessive wideband) allele in the domestic cat, which further enlarges the panel of recessive CORIN wideband alleles described in animals."

Prevalence: Beauvois et al. (2021): "The variant was also found in three Kurilian bobtail cats and in two ToyBob cats from the 99 Lives dataset but genotyping of 106 cats from 13 breeds failed to identify carriers in cats from other breeds."

Breed: Siberian (Cat) (VBO_0100223).

Associated gene: