OMIA 002159-9685 : Coat colour, golden in Felis catus

In other species: tiger

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

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.

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".

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CORIN corin, serine peptidase Felis catus B1 NC_018726.3 (167577047..167837345) CORIN Homologene, Ensembl, NCBI gene

Variants

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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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Siberian Sunshine (golden) CORIN wb^SIB missense B1 c.2383C>T p.(R795C) 2021 33970502

Reference


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 :, 2021. Pubmed reference: 33970502. DOI: 10.1111/age.13076.

Edit History


  • Created by Frank Nicholas on 14 May 2021
  • Changed by Frank Nicholas on 14 May 2021