OMIA 000201-9858 : Coat colour, agouti in Capreolus capreolus

In other species: gray wolf , coyote , dog , red fox , domestic cat , leopard , ass , horse , pig , Arabian camel , impala , cattle , goat , sheep , rabbit , North American deer mouse , Mongolian gerbil , meadow voles , domestic guinea pig , alpaca , leopard cat , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611742

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).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP Capreolus capreolus - no genomic information (-..-) ASIP Ensembl

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Melanistic (black) ASIP missense c.33G>T p.(Leu11Phe) 2020 32545389

Reference


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.

Edit History


  • Created by Frank Nicholas on 19 Jun 2020
  • Changed by Frank Nicholas on 19 Jun 2020