OMIA:001429-9685 : Coat colour, tabby in Felis catus
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 610046 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2012
Inheritance: Classical segregation studies by Robinson and others suggested that the tabby locus has four alleles that exist in a dominance hierarchy, namely non-tabby (unpatterned agouti, also called Abyssinian or ticked) T^a; spotted tabby T^s; mackerel tabby T^M; blotched tabby t^b. Subsequently, as described in the Mapping section of this page, three loci have been implicated and mapped.
Mapping: By examining the segregation of pairs of tabby alleles in three pedigrees, Eizirik et al. (2010) showed that at least three loci are involved in determining the tabby pattern. A gene (not then identified) in a 5Mb region of cat chromosome FCAA1 accounts for the two main tabby alleles, namely mackerel (T^a) and blotched (t^b). Eizirik et al. (2010) suggested calling this locus the tabby locus. They also show that the T^a allele maps to a 3.8Mb region, now called the Ticked locus, on cat chromosome FCAB1, thereby refining the mapping result of Lyons et al. (2006); see Coat Colour, Ticked (OMIA 001484-9685). The spotted phenotype appears to be due to the action of one or more modifying loci, as yet unmapped.
Molecular basis: By conducting an association analysis with SNPs in the 5MB candidate region of the Tabby locus on chromosome FCAA1 (see Mapping section above), Kaelin et al. (2012) narrowed the hunt down to a 244kb region containing three coding sequences, one of which had not been described previously in the cat. Sequencing cats of various tabby phenotypes revealed a range of causal mutations in the "new" gene, which the authors named Transmembrane Aminopeptidase Q (Taqpep). They named its peptide product Tabulin, to reflect its key role in tabby phenotypes. Using a slightly different nomenclature for tabby alleles, Kaelin et al. (2012) reported that "most blotched cats carried a nonsense mutation, W841X . . . in exon 17 of the third gene [i.e. Taqpep]. We subsequently identified two additional variants in the same gene, S59X and D228N . . . . This gene [Taqpep] is expressed in developing felid skin, and its loss of function causes a loss of color pattern periodicity without obvious effects on other organ systems. . . . In feral cats, we observed homozygosity or compound heterozygosity for the Ta^b S59X or W841X alleles in 58 out of 58 (58/58) blotched animals [Ta^b/Ta^b], with no phenotypic distinction among the different genotypic classes, compared to 51/51 mackerel cats [Ta^M/Ta^M or Ta^M/Ta^b] that carried 0 or 1 Ta^b alleles . . . A third Ta^b allele, D228N, was found to cosegregate with the blotched phenotype in a research colony ...The T139N allele is associated (P = 0.0017, Fisher’s exact test) with an atypical swirled pattern but is incompletely penetrant". In summary, Kaelin et al. (2012) reported three blotched tabby (Ta^b) alleles, namely S59X, D228N and W841X, in the gene named Transmembrane Aminopeptidase Q (Taqpep).
Jackson (2013) provides a very informative summary of the results of Kaelin et al. (2012).
The gene name "Taqpep" has been replaced by laeverin with symbol LVRN.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LVRN||laeverin||Felis catus||A1||NC_058368.1 (94476921..94551700)||LVRN||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|
|1429||Tabby, atypical swirl||LVRN||missense||Naturally occurring variant||Felis_catus_9.0||A1||p.(T139N)||DNA coordinates not published; associated with an atypical swirled pattern but is incompletely penetrant||2012||22997338|
|307||Blotched tabby||LVRN||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||A1||g.96753652C>A||c.176C>A||p.(S59*)||XM_023254329.1; XP_023110097.1||2012||22997338||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|124||Blotched tabby||LVRN||missense||Naturally occurring variant||Felis_catus_9.0||A1||g.96754158G>A||c.682G>A||p.(D228N)||XM_023254329.1; XP_023110097.1||2012||22997338||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|308||Blotched tabby||LVRN||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||A1||g.96813484G>A||c.2522G>A||p.(W841*)||XM_023254329.1; XP_023110097.1; Felis_catus_9.0 represents g.96813484A||2012||22997338||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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.
|2013||Jackson, I.J. :|
|How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns. Pigment Cell Melanoma Res 26:438-9, 2013. Pubmed reference: 23923821 . DOI: 10.1111/pcmr.12101.|
|2012||Kaelin, C.B., Xu, X., Hong, L.Z., David, V.A., McGowan, K.A., Schmidt-Küntzel, A., Roelke, M.E., Pino, J., Pontius, J., Cooper, G.M., Manuel, H., Swanson, W.F., Marker, L., Harper, C.K., van Dyk, A., Yue, B., Mullikin, J.C., Warren, W.C., Eizirik, E., Kos, L., O'Brien, S.J., Barsh, G.S., Menotti-Raymond, M. :|
|Specifying and sustaining pigmentation patterns in domestic and wild cats. Science 337:1536-41, 2012. Pubmed reference: 22997338 . DOI: 10.1126/science.1220893.|
|2010||Eizirik, E., David, VA., Buckley-Beason, V., Roelke, ME., Schaffer, AA., Hannah, SS., Narfstrom, K., O'Brien, SJ., Menotti-Raymond, M. :|
|Defining and mapping mammalian coat pattern genes: multiple genomic regions implicated in domestic cat stripes and spots. Genetics 184:267-75, 2010. Pubmed reference: 19858284 . DOI: 10.1534/genetics.109.109629.|
|Kaelin, C., Barsh, G. :|
|Tabby pattern genetics - a whole new breed of cat. Pigment Cell Melanoma Res 23:514-6, 2010. Pubmed reference: 20518859 . DOI: 10.1111/j.1755-148X.2010.00723.x.|
|2006||Lyons, LA., Bailey, SJ., Baysac, KC., Byrns, G., Erdman, CA., Fretwell, N., Froenicke, L., Gazlay, KW., Geary, LA., Grahn, JC., Grahn, RA., Karere, GM., Lipinski, MJ., Rah, H., Ruhe, MT., Bach, LH. :|
|The Tabby cat locus maps to feline chromosome B1. Anim Genet 37:383-6, 2006. Pubmed reference: 16879352 . DOI: 10.1111/j.1365-2052.2006.01458.x.|
|1988||Lomax, T.D., Robinson, R. :|
|Tabby pattern alleles of the domestic cat Journal of Heredity 79:21-23, 1988. Pubmed reference: 3367033 .|
|1987||Robinson, R. :|
|Mutant gene frequencies in cats of the greater London area. Theor Appl Genet 74:579-83, 1987. Pubmed reference: 24240212 . DOI: 10.1007/BF00288855.|
|Wagner, A., Wolsan, M. :|
|Pelage mutant allele frequencies in domestic cat populations of Poland. J Hered 78:197-200, 1987. Pubmed reference: 3611716 .|
|1977||Davis, BK., Davis, BP. :|
|Allele frequencies in a cat population in Budapest. J Hered 68:31-4, 1977. Pubmed reference: 864231 .|
|1972||Robinson, R. :|
|Mutant gene frequencies in cats of Cyprus. Theor Appl Genet 42:293-6, 1972. Pubmed reference: 24431063 . DOI: 10.1007/BF00277721.|
|1958||Robinson, R. :|
|Mosaicism in mammals. Genetica 29:120-45, 1958. Pubmed reference: 13548508 .|
|1918||Whiting, P.W. :|
|Inheritance of coat color in cats. Journal of Experimental Zoology 25:539–569, 1918.|
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