OMIA:000201-9627 : Coat colour, agouti in Vulpes vulpes (red fox)

In other species: Tasmanian devil , common brushtail possum , gray wolf , coyote , dog , domestic cat , 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: 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).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP Vulpes vulpes NW_020356514.1 (7857560..7853566) 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
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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000201-9627: 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.

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.

Edit History


  • 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