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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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611742

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 - no genomic information (-..-) 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
No light points ASIP NLP missense c.349T>C p.C117R 2015 25887951
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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