OMIA 000201-9838 : Coat colour, agouti in Camelus dromedarius

In other species: gray wolf , coyote , dog , red fox , domestic cat , leopard , ass , horse , pig , impala , cattle , goat , sheep , rabbit , North American deer mouse , meadow voles , alpaca , leopard cat , Geoffroy's cat , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole

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

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

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.

Molecular basis: Adopting the comparative candidate gene approach, Almathen et al. (2018) sequenced the ASIP gene in "91 animals from ten Arabian camel populations, that included the four predominant coat color phenotypes observed in the dromedary (light brown, dark brown, black and white)". They identified two variants "a 1-bp deletion (23delT/T) and a SNP (25G/A) in exon 2 of ASIP" that exist as two haplotypes, namely "23delT-25A and 23T-25G". Noting that the "23delT-25A haplotype results in a frame shift mutation, which changes the amino acid sequence and introduces a premature stop codon at position 24", Almathen et al. (2018) reported that this haplotype is associated with black and dark-brown coat colour: "Animals with black and dark-brown coat colors (n = 40, Magaheem and Sofor [populations]) were homozygous for haplotype 23delT-25A, whereas all light-brown and white individuals (n = 51) were homozygous for the 23T-25G haplotype".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP agouti signaling protein Camelus dromedarius - no genomic information (-..-) ASIP Homologene, Ensembl, NCBI gene

Variants

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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
Black and dark-brown coat colour ASIP haplotype KU179868 c.[23delT;c.25G>A] As described by Almathen et al. (2018), this haplotype comprises "a 1-bp deletion (23delT/T) and a SNP (25G/A) in exon 2 of ASIP". 2018 29893870

Reference


2018 Almathen, F., Elbir, H., Bahbahani, H., Mwacharo, J., Hanotte, O. :
Polymorphisms in MC1R and ASIP genes are associated with coat colour variation in the Arabian camel. J Hered :, 2018. Pubmed reference: 29893870. DOI: 10.1093/jhered/esy024.

Edit History


  • Created by Frank Nicholas on 28 Aug 2018
  • Changed by Frank Nicholas on 28 Aug 2018