OMIA 001199-9685 : Coat colour, extension in Felis catus
Gustafson et al. (2017): russet in Burmese cats: 3-bp deletion (c.439_441del; p.Phe146del)
Abitbol and Gache (2019) reported "a c.640_669del in‐frame deletion that is predicted to cause a p.(Ala214_Ala223del) deletion of 10 amino acids in the protein" as the likely causal variant for an autosomal recessive orange coat colour that develops with age in the Kurilian Bobtail breed. The authors names this the Copal variant. As the authors describe, the phenotype was reported in "brown tabby cats born with a warm reddish tone and exhibiting a modification of their original colour during their first year of life. Kittens brighten and adults show an apricot‐red colour. Eumelanin disappears from hairs and cats become very similar to red cats (X‐linked orange locus . . .)". In a personal communication of 6 August 2019, Dr Abitbol advises that "homozygous cats for the variant become red but heterozygous tabby cats are referenced as "golden" by breeders (due to their warm coat colour). It seems that the variant has slight effect on heterozygous tabby cats. But the variant seems to have no effect on heterozygous solid cats."
Bychkova et al. (2020) confirmed the existence and effect of the c.640_669del variant.Breeds: Burmese, Kurilian Bobtail, Norwegian Forest. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)||Felis catus||E2||NC_018737.3 (63829685..63830638)||MC1R||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|Burmese||Coat colour, russet||MC1R||e^r||deletion, small (<=20)||c.439_441del||p.Phe146del||2017||27671997|
|Norwegian Forest||Coat colour, amber||MC1R||e||missense||Felis_catus_6.2||E2||g.63721093G>A||c.250G>A||p.D84N||2009||19422360||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|Kurilian Bobtail||Coat colour, copal||MC1R||e^c||deletion, small (<=20)||Felis_catus_8.0||c.640_669del||p.(Ala214_Ala223del)||Genbank accession no. MK890105||2019||31361350|
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.
|2020||Bychkova, E.O., Golubeva, N.A., Filippova, E.A., Sangina, L.O., Markov, A.V. :|
|A New Mutation in the MC1R Gene Leads to Unique Carnelian Color in Kurilian Bobtails Russian Journal of Genetics 56:108-111, 2020. DOI: 10.1134/S1022795420010020.|
|2019||Abitbol, M., Gache, V. :|
|Copal, a new MC1R allele in the domestic cat. Anim Genet 50:553-554, 2019. Pubmed reference: 31361350. DOI: 10.1111/age.12829.|
|2017||Gustafson, N.A., Gandolfi, B., Lyons, L.A. :|
|Not another type of potato: MC1R and the russet coloration of Burmese cats. Anim Genet 48:116-120, 2017. Pubmed reference: 27671997. DOI: 10.1111/age.12505.|
|2009||Peterschmitt, M., Grain, F., Arnaud, B., Deléage, G., Lambert, V. :|
|Mutation in the melanocortin 1 receptor is associated with amber colour in the Norwegian Forest Cat. Anim Genet 40:547-52, 2009. Pubmed reference: 19422360. DOI: 10.1111/j.1365-2052.2009.01864.x.|
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