OMIA 000202-9685 : Coat colour, albinism in Felis catus

See the equivalent entry at NCBI

In other species: cattle , dog , rabbit , sheep , Sumatran tiger , western chorus frog , grass carp , golden hamster , gray short-tailed opossum , raccoon , meadow voles , water buffalo , Arizona pocket mouse , nutria , eastern chipmunk , rufous rat-kangaroo , hippopotamus , hares , northern pocket gopher , North American deer mouse , ass , Japanese medaka , rainbow trout , brown bear , American mink , grivet , goldfish , Campbell's desert hamster , humpback whale , axolotl , African clawed frog , turkey vulture , American black bear , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , Bornean orangutan

Possible human homologue (MIM number): 203100

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key mutation known: yes

Year key mutation first reported: 2005

Cross-species summary: Congenital lack of pigment in all parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA)

Species-specific name: congenital inherited strabismus and spontaneous nystagmus

Species-specific symbol: CISSN

Inheritance: As reported by Lyons et al. (2005), "The locus was originally designated the color locus (C). Breeding data from cats suggested an allelic series with at least three alleles, C > cb > cs (Robinson 1991). . . . The C allele is completely dominant with normal colour presentation. The Burmese phenotypic variant, cbcb, results in a temperature-sensitive gradient of greatest pigmentation at the points and less on the torso. The well-known Siamese ‘pointed’ phenotype is cscs; the fur is pigmented only at the extremities, the torso colouration is very light to white, and the lack of pigmentation produces blue eye colour. One cat breed, the Tonkinese, is heterozygous (cbcs) and has an intermediate colour gradient phenotype to Burmese and Siamese. Several cat breeds are fixed for the albinism alleles. These include Burmese and Singapura for the cb allele, and Siamese, Birman, and Himalayan (pointed Persians) for the cs allele."

Mapping: O'Brien et al. (1986) linkage mapped feline albinism to the gene for beta haemoglobin (HBB). Since the tyrosinase gene (TYR) was known to be linked to HBB in mice, this provided additional strong evidence for TYR as the most likely comparative positional candidate gene for feline albinism.

Molecular basis: In a landmark study, and based on TYR being a very likely comparative positional candidate gene (see above), Lyons et al. (2005) confirmed what had long been suspected, namely that the trademark Burmese and Siamese coat colours are due to mutations in the tyrosinase (TYR) gene. The Burmese phenotype is due to a 715G>T transversion in exon 1, resulting in a G227W amino-acid substitution; and the Siamese phenotype is due to a 940G>A transition in exon 2, resulting in a G302R amino-acid substitution. Two months later*, Schmidt-Küntzel et al. (2005) independently reported the same results.

The following year, Imes et al. (2006) discovered a causal mutation for complete albinism: "a cytosine deletion in TYR at position 975 in exon 2, which causes a frame shift resulting in a premature stop codon nine residues downstream from the mutation."

* Lyons et al. (2005): accepted 20 January 2005; Schmidt-Küntzel et al. (2005): accepted 21 March 2005

Abitbol et al. (2017) reported a different TYR albino mutation in a domestic shorthair cat, namely c.1204C>T; p.R402*

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Felis catus D1 NC_018732.3 (45908743..45803122) TYR Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Coat colour, complete albinism TYR deletion, small (<=20) "a cytosine deletion in TYR at position 975 in exon 2" 2006 16573534
Siamese Siamese coat colour TYR missense c. 940G>A p.G302R 2005 15771720
Albinism TYR nonsense (stop-gain) Felis_catus_6.2 D1 g.46311692C>T c.1204C>T p.R402* 2017 27634063 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Burmese Burmese coat colour TYR missense Felis_catus_6.2 D1 g.46406472G>T c.679G>T p.G227W 2005 15771720 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


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.
2017 Abitbol, M., Bossé, P., Grimard, B., Martignat, L., Tiret, L. :
Allelic heterogeneity of albinism in the domestic cat. Anim Genet 48:127-128, 2017. Pubmed reference: 27634063. DOI: 10.1111/age.12503.
2006 Imes, DL., Geary, LA., Grahn, RA., Lyons, LA. :
Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Anim Genet 37:175-8, 2006. Pubmed reference: 16573534. DOI: 10.1111/j.1365-2052.2005.01409.x.
2005 Kaas, JH. :
Serendipity and the Siamese cat: the discovery that genes for coat and eye pigment affect the brain. ILAR J 46:357-63, 2005. Pubmed reference: 16179744.
Lyons, LA., Imes, DL., Rah, HC., Grahn, RA. :
Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). Anim Genet 36:119-26, 2005. Pubmed reference: 15771720. DOI: 10.1111/j.1365-2052.2005.01253.x.
Schmidt-Küntzel, A., Eizirik, E., O'Brien, S.J., Menotti-Raymond, M. :
Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci. J Hered 96:289-301, 2005. Pubmed reference: 15858157. DOI: 10.1093/jhered/esi066.
2000 Christensen, A.C. :
Cats as an aid to teaching genetics. Genetics 155:999-1004, 2000. Pubmed reference: 10880464.
Schmolesky, M.T., Wang, Y.C., Creel, D.J., Leventhal, A.G. :
Abnormal retinotopic organization of the dorsal lateral geniculate nucleus of the tyrosinase-negative albino cat Journal of Comparative Neurology 427:209-219, 2000. Pubmed reference: 11054689.
1992 Berman, N.E.J., Grant, S. :
Topographic Organization, Number, and Laminar Distribution of Callosal Cells Connecting Visual Cortical Area-17 and Area-18 of Normally Pigmented and Siamese Cats Visual Neuroscience 9:1-19, 1992. Pubmed reference: 1378754.
1991 Robinson, R. :
Colour and cat inheritance. In "Genetics for cat breeders", Pergamon Press, Oxford. :113-114, 1991.
1990 Garraghty, P.E., Schall, J.D., Kaas, J.H. :
Normal Somatotopy in SI of a Tyrosinase-Negative Albino Cat Brain Research 536:315-317, 1990. Pubmed reference: 2085758.
Yin, T.C.T., Carney, L.H., Joris, P.X. :
Interaural Time Sensitivity in the Inferior Colliculus of the Albino Cat Journal of Comparative Neurology 295:438-448, 1990. Pubmed reference: 2351762. DOI: 10.1002/cne.902950308.
1986 O'Brien, S.J., Haskins, M.E., Winkler, C.A., Nash, W.G., Patterson, D.F. :
Chromosomal mapping of beta-globin and albino loci in the domestic cat. A conserved mammalian chromosome map Journal of Heredity 77:374-378, 1986. Pubmed reference: 3559163.
1985 Leventhal, A.G., Vitek, D.J., Creel, D.J. :
Abnormal visual pathways in normally pigmented cats that are heterozygous for albinism Science 229:1395-1397, 1985. Pubmed reference: 3929383.
Leventhal, AG., Creel, DJ. :
Retinal projections and functional architecture of cortical areas 17 and 18 in the tyrosinase-negative albino cat. J Neurosci 5:795-807, 1985. Pubmed reference: 2983049.
1984 Conlee, JW., Parks, TN., Romero, C., Creel, DJ. :
Auditory brainstem anomalies in albino cats: II. Neuronal atrophy in the superior olive. J Comp Neurol 225:141-8, 1984. Pubmed reference: 6725637. DOI: 10.1002/cne.902250115.
1983 Creel, D., Conlee, J.W., Parks, T.N. :
Auditory brainstem anomalies in albino cats. I. Evoked potential studies. Brain Res 260:1-9, 1983. Pubmed reference: 6824946.
1982 Creel, D., Hendrickson, AE., Leventhal, AG. :
Retinal projections in tyrosinase-negative albino cats. J Neurosci 2:907-11, 1982. Pubmed reference: 6808091.
1981 Turner, P., Robinson, R., Dyte, C.E. :
Blue-eyed albino - a new albino allele in the domestic cat Genetica 56:71-73, 1981.
1971 Creel, D.J. :
Visual system anomaly associated with albinism in the cat. Nature 231:465-6, 1971. Pubmed reference: 4931610.
1963 Todd, N.B. :
Independent assortment of Manx and three coat colour mutants in the domestic cat Journal of Heredity 54:266-272, 1963. Pubmed reference: 14098315.
1931 Bamber, R.C., Herdman, E.C. :
Two new colour-types in cats Nature 127:558 only, 1931. DOI: 10.1038/127558c0.
1930 Iljin, N.A., Iljin, V.N. :
Temperature effects on the colour of the Siamese cat Journal of Heredity 21:309-318, 1930.
1924 Tjebbes. K. :
Crosses with Siamese cats Journal of Genetics 14:355-366, 1924.

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  • Created by Frank Nicholas on 12 Nov 2010
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  • Changed by Frank Nicholas on 02 Mar 2017