OMIA:000201-61406 : Coat colour, agouti in Leopardus colocolo (Colocolo)

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

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 recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2015

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".

Molecular basis: Schneider et al. (2015): the likely causal variant of melanism (black coat) is R120C

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

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

Variants

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 headers.

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
252 Melanism (black coat) ASIP missense Naturally occurring variant p.(R120C) 2015 25695801

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000201-61406: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2015 Schneider, A., Henegar, C., Day, K., Absher, D., Napolitano, C., Silveira, L., David, V.A., O'Brien, S.J., Menotti-Raymond, M., Barsh, G.S., Eizirik, E. :
Recurrent evolution of melanism in South American felids. PLoS Genet 11:e1004892, 2015. Pubmed reference: 25695801. DOI: 10.1371/journal.pgen.1004892.

Edit History


  • Created by Frank Nicholas on 26 Apr 2016
  • Changed by Frank Nicholas on 26 Apr 2016
  • Changed by Frank Nicholas on 31 Mar 2020