OMIA:000201-9793 : Coat colour, agouti in Equus asinus (ass (donkey))

In other species: gray wolf , coyote , dog , red fox , domestic cat , leopard , 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 , Colocolo , 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".

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."

Mapping: Liu et al. (2023) "genome-wide association analysis was performed for the differences in coat color traits between the Sanfen (n = 97) [light points around the eyes, around the muzzle and under the belly] and Wutou (n = 108) [solid black] strains [of Chinese Dezhou donkeys] using a novel donkey 40K liquid chip ... . ... [The authors] identified one significant region on chromosome 15, with the most significant SNP located within the agouti signaling protein (ASIP) gene."

Molecular basis: Abitbol et al. (2015): a likely causal variant for the no light points (NLP) phenotype is c.349T>C; p.Cys117Arg

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

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."

Breeds: Âne de Provence, France (Ass) (VBO_0001837), Âne normand, France (Ass) (VBO_0001841), Dezhou, China (Ass) (VBO_0001799), Miniature, United States of America (Ass) (VBO_0001922).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

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

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
149 Âne de Provence, France (Ass) Âne normand, France (Ass) Dezhou, China (Ass) Miniature, United States of America (Ass) No light points ASIP NLP missense Naturally occurring variant c.349T>C p.(C117R) 2015 25887951

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000201-9793: 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 Liu, S., Su, J., Yang, Q., Sun, M., Wang, Z., Yu, J., Jafari, H., Lei, C., Sun, Y., Dang, R. :
Genome-wide analyses based on a novel donkey 40K liquid chip reveal the gene responsible for coat color diversity in Chinese Dezhou donkey. Anim Genet , 2023. Pubmed reference: 37994172. DOI: 10.1111/age.13379.
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 51:629, 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
  • Changed by Imke Tammen2 on 28 Nov 2023