OMIA:000201-9793 : Coat colour, agouti in Equus asinus |
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 , impala , Colocolo , Kodkod , Arabian camel , Mongolian gerbil , domestic guinea pig , Western roe deer , llama , oldfield mouse
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".
Species-specific description: Sun et al. (2017): "Donkeys have various coat colors with two major patterns: no light points (NLP) and light points (LP). . . . Animals with the LP pattern have black or grey to spotting and black or grey with cream to grey-white hair around the muzzle and eyes."
Molecular basis: Abitbol et al. (2015): a likely causal variant for the no light points (NLP) phenotype is c.349T>C; p.Cys117Arg
Prevalence: Sun et al. (2017): "All 20 solid-black Dezhou donkeys had the CC genotype, which indicates that the ASIP c.349T>C variant distinguishes between solid-black (genotype CC) and non-black (genotype TT and TC) donkeys, at least in the Dezhou donkeys and most likely also in other breeds. Our results will facilitate the selection of the solid-black coat color in donkeys."
From a survey of 283 donkeys, Yu et al. (2020) reported "Donkeys homozygous for the ASIP [c.349]T‐allele all have light points, which are missing in all homozygous C‐allele genotype at c.349T>C (CC) animals . . . However, 27.8% of the NLP [no light points] donkeys are heterozygous, which has not been found previously. . . . The variable phenotypes of ASIP heterozygotes and of ASIP TT homozygotes indicate the involvement of one or more other genes that so far have not been identified."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ASIP | agouti signaling protein | Equus asinus | 15 | NC_052191.1 (25292944..25410462) | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 149 | No light points | ASIP | NLP | missense | Naturally occurring variant | c.349T>C | p.(C117R) | 2015 | 25887951 |
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.
| 2020 | Yu, Y., Shang, S., Zhang, X., Wang, Z., Dang, W., Zhang, J., Zhu, Y., Dang, R., Irwin, D.M., Zhang, S. : |
| A missense mutation in ASIP is associated with light point variation in donkeys. Anim Genet :, 2020. Pubmed reference: 32311147 . DOI: 10.1111/age.12940. | |
| 2017 | Sun, T., Li, S., Xia, X., Ji, C., Shen, S., Zhang, G., Yu, J., Jiang, G., Dang, R., Lei, C. : |
| ASIP gene variation in Chinese donkeys. Anim Genet 48:372-373, 2017. Pubmed reference: 28198029 . DOI: 10.1111/age.12530. | |
| 2015 | Abitbol, M., Legrand, R., Tiret, L. : |
| A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys. Genet Sel Evol 47:28, 2015. Pubmed reference: 25887951 . DOI: 10.1186/s12711-015-0112-x. |
Edit History
- Created by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 02 Sep 2017
- Changed by Frank Nicholas on 24 Apr 2020