OMIA:002159-9685 : Coat colour, golden in Felis catus
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).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CORIN||corin, serine peptidase||Felis catus||B1||NC_058371.1 (164895076..165152497)||CORIN||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1463||British Shorthair (Cat)||Copper (British recessive wideband)||CORIN||wb^BSH||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||B1||c.2425C>T||p.(R809*)||ON640807||2022||35703390|
|1456||Siberian (Cat)||Extreme sunshine (Siberian recessive extreme wideband)||CORIN||wb^eSIB||missense||Naturally occurring variant||Felis_catus_9.0||B1||g.167737406G>A||c.839G>A||p.(C280Y)||XM_019829549.2; XP_019685108.1; reported as Genbank ID ON355336||2022||35574714|
|1313||Siberian (Cat)||Sunshine (golden)||CORIN||wb^SIB||missense||Naturally occurring variant||Felis_catus_9.0||B1||g.167809720C>T||c.2383C>T||p.(R795C)||XM_019829551.2; XP_019685110.1||2021||33970502||Genomic position in Felis_catus_9.0 provided by Joshua Khamis.|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2022||Abitbol, M., Dargar, T., Gache, V. :|
|Golden cats: The story goes on. Anim Genet 53:543-545, 2022. Pubmed reference: 35574714 . DOI: 10.1111/age.13215.|
|Abitbol, M., Dargar, T., Gache, V. :|
|Golden cats: A never-ending story! Anim Genet 53:715-718, 2022. Pubmed reference: 35703390 . DOI: 10.1111/age.13228.|
|2021||Beauvois, H., Dufaure de Citres, C., Gache, V., Abitbol, M. :|
|Siberian cats help in solving part of the mystery surrounding golden cats. Anim Genet 52:482-91, 2021. Pubmed reference: 33970502 . DOI: 10.1111/age.13076.|
- Changed by Frank Nicholas on 14 May 2021
- Created by Frank Nicholas on 14 May 2021
- Changed by Frank Nicholas on 18 May 2022
- Changed by Frank Nicholas on 20 Jun 2022