OMIA:000201-9685 : Coat colour, agouti in Felis catus (domestic cat) |
In other species: Tasmanian devil , common brushtail possum , gray wolf , coyote , dog , red fox , leopard , ass (donkey) , horse , pig , Arabian camel , llama , Western roe deer , impala , taurine cattle , goat , sheep , rabbit , tassel-eared squirrel , North American deer mouse , Mongolian gerbil , meadow voles , domestic guinea pig , fallow deer , alpaca , leopard cat , oldfield mouse , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611742 (trait) , 600201 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: no
Key variant known: yes
Year key variant first reported: 2003
Cross-species summary: This locus, ASIP, encodes the agouti signalling protein, a peptide antagonist of the melanocyte-stimulating hormone receptor (MC1R), which is the product of the extension locus. As explained by Schneider et al. (PLoS Genet 10(2): e1004892; 2015), "The most common causes of melanism (black coat) mutations are gain-of-function alterations in MC1R, or loss-of function alterations in ASIP, which encodes Agouti signaling protein, a paracrine signaling molecule that inhibits MC1R signaling".
Species-specific description: See also 'OMIA:002549-9685 : Coat colour and pattern, charcoal, ASIP-related in Felis catus' for charcoal Bengal cats.
Molecular basis: By cloning and sequencing a very likely positional candidate gene (based on the key role of the ASIP in pigmentation, and its close linkage with melanism in cats), Eizirik et al. (2003) reported that "a 2 bp deletion in the ASIP gene [at nucleotide positions 123–124] specifies black coloration in domestic cats". The deletion "induces a frame shift in the inferred protein, predicting a complete loss of the C-terminal active domain". This is the classic recessive non-agouti allele (a).
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ASIP | agouti signaling protein | Felis catus | A3 | NC_058370.1 (24990144..24826711) | ASIP | 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.
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 | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
493 | Coat colour, non-agouti (black) | ASIP | a | deletion, small (<=20) | Naturally occurring variant | Felis_catus_9.0 | A3 | g.25086566_25086567del | c.123_124del | p.(M42Efs*59) | NM_001009190.1; NP_001009190.1; "a 2 bp deletion in the ASIP gene [at nucleotide positions 123-124]" | rs5334475125 | 2003 | 12620197 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000201-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
2022 | Anderson, H., Davison, S., Lytle, K.M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O.P., Lohi, H., Donner, J. : |
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804, 2022. Pubmed reference: 35709088. DOI: 10.1371/journal.pgen.1009804. | |
2021 | Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. : |
A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7. | |
2003 | Eizirik, E., Yuhki, N., Johnson, W.E., Menotti-Raymond, M., Hannah, S.S., O'Brien, S.J. : |
Molecular genetics and evolution of melanism in the cat family Current Biology 13:448-53, 2003. Pubmed reference: 12620197. | |
2000 | Christensen, A.C. : |
Cats as an aid to teaching genetics. Genetics 155:999-1004, 2000. Pubmed reference: 10880464. DOI: 10.1093/genetics/155.3.999. | |
1987 | Wagner, A., Wolsan, M. : |
Pelage mutant allele frequencies in domestic cat populations of Poland. J Hered 78:197-200, 1987. Pubmed reference: 3611716. DOI: 10.1093/oxfordjournals.jhered.a110356. | |
1963 | Todd, N.B. : |
Independent assortment of Manx and three coat colour mutants in the domestic cat J Hered 54:266, 1963. Pubmed reference: 14098315. DOI: 10.1093/oxfordjournals.jhered.a107263. |
Edit History
- Created by Frank Nicholas on 17 Feb 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012
- Changed by Frank Nicholas on 03 Oct 2014
- Changed by Imke Tammen2 on 16 Jun 2021
- Changed by Imke Tammen2 on 08 Apr 2022
- Changed by Imke Tammen2 on 08 Feb 2024
- Changed by Imke Tammen2 on 21 Jun 2024