OMIA:000201-9685 : Coat colour, agouti in Felis catus
In other species: horse , cattle , meadow voles , red fox , pig , sheep , rabbit , dog , gray wolf , coyote , goat , Eurasian water mole , Northern mole vole , North American deer mouse , alpaca , leopard , Asiatic golden cat , leopard cat , ass , impala , Colocolo , Kodkod , Arabian camel , Mongolian gerbil , domestic guinea pig , Western roe deer , llama , oldfield mouse
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611742 (trait) , 600201 (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: 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 'OMIA002549-9685 : 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).
|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|
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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|
|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]"||2003||12620197||The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770|
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.
|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 .|
|1987||Wagner, A., Wolsan, M. :|
|Pelage mutant allele frequencies in domestic cat populations of Poland. J Hered 78:197-200, 1987. Pubmed reference: 3611716 .|
|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 .|
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