OMIA:000201-9858 : Coat colour, agouti in Capreolus capreolus (Western roe deer)
In other species: gray wolf , coyote , dog , red fox , domestic cat , leopard , ass (donkey) , horse , pig , Arabian camel , llama , impala , taurine cattle , goat , sheep , rabbit , North American deer mouse , Mongolian gerbil , meadow voles , domestic guinea pig , alpaca , leopard cat , oldfield mouse , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2020
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".
Inheritance: Reissmann et al. (2020): "Generally, all black specimens (n = 33) were homozygous TT, whereas chestnut individuals were either homozygote GG (n = 436) or heterozygote GT (n = 26)."
Molecular basis: Targeted sequencing of the candidate gene ASIP in 24 European roe deer from North-West Germany led to Reissmann et al. (2020) to discover a likely causal variant c.33G>T, p.(Leu11Phe).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||Capreolus capreolus||-||no genomic information (-..-)||ASIP||Ensembl|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
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|
|1219||Melanistic (black)||ASIP||missense||Naturally occurring variant||c.33G>T||p.(L11F)||2020||32545389|
Cite this entry
|2020||Reissmann, M., Lutz, W., Lieckfeldt, D., Sandoval-Castellanos, E., Ludwig, A. :|
|An Agouti-Signaling-Protein Mutation is Strongly Associated with Melanism in European Roe Deer (<i>Capreolus capreolus</i>). Genes (Basel) 11, 2020. Pubmed reference: 32545389. DOI: 10.3390/genes11060647.|
- Created by Frank Nicholas on 19 Jun 2020
- Changed by Frank Nicholas on 19 Jun 2020