OMIA 000201-10141 : Coat colour, agouti in Cavia porcellus

In other species: horse , cattle , meadow voles , red fox , 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 , Western roe deer , llama

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611742 (trait) , 600201 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2019

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: Lai et al. (2019) reported that their "results are consistent with the autosomal recessive mode of inheritance of the black‐coat‐colour phenotype in guinea pigs".

Molecular basis: Lai et al. (2019) discovered a "4‐bp deletion (c.181_184delTTCA) in exon 3 of ASIP gene [that] is completely associated with the black coat colour in guinea pigs." This deletion "leads to a truncated protein of 77 amino acids due to the premature stop codon."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Asip agouti signaling protein Cavia porcellus NT_176374.1 (1173101..1178497) Asip Homologene, Ensembl, NCBI gene

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
1119 Recessive black Asip deletion, small (<=20) Naturally occurring variant c.181_184delTTCA MH026115: c.181_184delTTCA; the deletion leads to a truncated protein of 77 amino acids due to the premature stop codon. 2019 30746725

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.
2019 Lai, W., Hu, M., Zhu, W., Yu, F., Bai, C., Zhang, J., Yan, S. :
A 4-bp deletion in the ASIP gene is associated with the recessive black coat colour in domestic guinea pigs (Cavia porcellus). Anim Genet 50:190-191, 2019. Pubmed reference: 30746725. DOI: 10.1111/age.12766.
Sakuma, Y., Matsunami, M., Takada, T., Suzuki, H. :
Multiple conserved elements structuring inverted repeats in the mammalian coat color-related gene Asip. Zoolog Sci 36:23-30, 2019. Pubmed reference: 31116535. DOI: 10.2108/zs180081.

Edit History


  • Created by Frank Nicholas on 21 Sep 2019
  • Changed by Frank Nicholas on 21 Sep 2019