OMIA:000201-9627 : Coat colour, agouti in Vulpes vulpes
In other species: horse , cattle , meadow voles , pig , sheep , domestic cat , 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: 1997
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: Vage et al. (1997) cloned and characterized the fox agouti gene, and showed that a deletion in the first coding exon is responsible for the recessive agouti allele documented in the darkly pigmented Standard Silver fox ("a 166-nt deletion in the Standard Silver fox cDNA, spanning the second exon ... . This deletion removes the start codon and entire signal peptide"). This dark pigmentation is presumably due to the lack of agouti product, i.e. the lack of an antagonist to the melanocyte-stimulating hormone receptor (which is the product of the extension locus).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||Vulpes vulpes||-||no genomic information (-..-)||ASIP||Ensembl|
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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|
|667||Dark Standard Silver||ASIP||deletion, gross (>20)||Naturally occurring variant||VulVul2.2||NW_020356514.1||A 16.5-kb deletion resulting in "a 166-nt deletion in the Standard Silver fox cDNA, spanning the second exon ... .This deletion removes the start codon and entire signal peptide"||1997||9054949|
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.
|2003||Vage, D.I., Stavdal, E.B., Beheim, J., Klungland, H. :|
|Why certain silver fox genotypes develop red hairs in their coat. Scientifur 27:79–83, 2003.|
|1997||Vage, D.I., Lu, D.S., Klungland, H., Lien, S., Adalsteinsson, S., Cone, R.D. :|
|A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes Nature Genetics 15:311-315, 1997. Pubmed reference: 9054949 . DOI: 10.1038/ng0397-311.|
- Created by Frank Nicholas on 29 Nov 2005
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012
- Changed by Imke Tammen2 on 20 Jan 2023