OMIA:000201-9986 : Coat colour, agouti in Oryctolagus cuniculus (rabbit) |
In other species: Tasmanian devil , common brushtail possum , gray wolf , coyote , dog , red fox , domestic cat , leopard , ass (donkey) , horse , pig , Arabian camel , llama , Western roe deer , impala , taurine cattle , goat , sheep , 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)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: no
Key variant known: yes
Year key variant first reported: 2010
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: As summarised by Robinson (1958), classic inheritance studies established the existence of three alleles at this locus, namely agouti (A), tan (also known as black and tan) (a^t) and self or non-agouti (a).
Molecular basis: Fontanesi et al. (2010) "identified the causative mutation (an insertion in exon 2) of the black nonagouti allele", namely "c.5_6insA mutation (which causes a frameshift and a predicted truncated protein of only 21 amino acids". Letko et al. (2020) identified a likely causal variant for the a^t allele, namely "an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del" in the ASIP gene. The authors noted that the "deletion is located in the region of the hair cycle‐specific ASIP promoter and thus in a region homologous to the site of the retroviral insertion causing the at allele in mice."
Prevalence: Letko et al. (2020) "genotyped 49 rabbits with different coat colours . . . . Out of 19 black and tan rabbits analysed, 17 carried the deletion in a homozygous state. The remaining two black and tan rabbits were heterozygous for the deletion but also heterozygous for the single base insertion, causing recessive black and thus presumably compound heterozygous a^t/a. As the a allele is recessive to a^t, rabbits with an a^t/a genotype are phenotypically black and tan. None of the 30 rabbits that were not black and tan carried the deletion in a homozygous state."
Breeds:
Alaska (Rabbit) (VBO_0001227),
Blauer Wiener (Rabbit) (VBO_0001234),
California (Rabbit) (VBO_0001239),
Champagne-Silberkaninchen, Germany (Rabbit) (VBO_0013836),
Checkered Giant,
Checkered Small,
Coloured dwarf,
Dutch (Rabbit) (VBO_0001245),
English Spot (Rabbit) (VBO_0001246),
Fairly Pearly,
Giant Grey,
Havanna (Rabbit) (VBO_0001256),
Lop,
Lop dwarf,
Marburger Feh (Rabbit) (VBO_0001262),
Mini Silver,
New Zealand White (Rabbit) (VBO_0001269),
Rex (Rabbit) (VBO_0001272),
Rheinische Schecken (Rabbit) (VBO_0001275),
Russian (Rabbit) (VBO_0001276),
Silver (Rabbit) (VBO_0001280),
Thüringer (Rabbit) (VBO_0001283),
Weisse Wiener (Rabbit) (VBO_0001285),
White Hotot (Rabbit) (VBO_0001288).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ASIP | agouti signaling protein | Oryctolagus cuniculus | 4 | NC_067377.1 (13285285..13089975) | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 567 | New Zealand White (Rabbit) | Black (non-agouti) | ASIP | a | insertion, small (<=20) | Naturally occurring variant | 4 | c.5_6insA | Letko et al. (2020): NM_001122939.1:c.5_6insA | 2010 | 20004240 | |||||
| 1134 | Black and tan | ASIP | a^t | deletion, gross (>20) | Naturally occurring variant | OryCun2.0 | 4 | g.5455408_5466123del | Letko et al. (2020): NC_013672.1:g.5,455,408_5,466,123del | 2020 | 31729778 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000201-9986: 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.
| 2023 | Zhang, K., Wang, G., Wang, L., Wen, B., Fu, X., Liu, N., Yu, Z., Jian, W., Guo, X., Liu, H., Chen, S.Y. : |
| A genome-wide association study of coat color in Chinese Rex rabbits. Front Vet Sci 10:1184764, 2023. Pubmed reference: 37655262. DOI: 10.3389/fvets.2023.1184764. | |
| 2020 | Letko, A., Ammann, B., Jagannathan, V., Henkel, J., Leuthard, F., Schelling, C., Carneiro, M., Drögemüller, C., Leeb, T. : |
| A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform in black and tan rabbits. Anim Genet 51:137-140, 2020. Pubmed reference: 31729778. DOI: 10.1111/age.12881. | |
| 2019 | 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. | |
| 2010 | Fontanesi, L., Forestier, L., Allain, D., Scotti, E., Beretti, F., Deretz-Picoulet, S., Pecchioli, E., Vernesi, C., Robinson, TJ., Malaney, JL., Russo, V., Oulmouden, A. : |
| Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic analyses and identification of the causative mutation of the nonagouti black coat colour. Genomics 95:166-75, 2010. Pubmed reference: 20004240. DOI: 10.1016/j.ygeno.2009.11.003. | |
| 1958 | Robinson, R. : |
| Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958. | |
| 1953 | Cleffmann, G. : |
| [Studies on the coat markings of wild rabbits; a contribution to the mechanism of the agouti factor.] Z Indukt Abstamm Vererbungsl 85:137-62, 1953. Pubmed reference: 13091004. |
Edit History
- Created by Frank Nicholas on 09 Jul 2010
- Changed by Frank Nicholas on 08 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 17 Jun 2013
- Changed by Frank Nicholas on 19 Nov 2019
- Changed by Frank Nicholas on 13 Apr 2020
- Changed by Imke Tammen2 on 06 Mar 2023