OMIA 000201-61455 : Coat colour, agouti in Catopuma temminckii

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 , leopard cat , ass , impala , Colocolo , Kodkod , Geoffroy's cat , Arabian camel , Mongolian gerbil

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: 2012

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.

Species-specific name: Also known as Pardofelis temminckii

Inheritance: On the strength of the evidence that the melanistic phenotype in this species is due to homozygosity for a base substitution, and that this phnotype in other species is autosomal recessive, Schneider et al. (2012) concluded autosomal recessive inheritance for this trait in this species.

Molecular basis: By sequencing the ASIP candidate gene in non-melanistic and melanistic Asian golden cats, Schneider et al. (2012) showed that the melanistic phenotype is due to homozygosity for "a non-synonymous substitution (C384G) predicted to cause a cysteine-tryptophan substitution at codon 128".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP Catopuma temminckii - no genomic information (-..-) ASIP Ensembl

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
Coat colour, agouti ASIP missense c.384C>G p.C128W 2012 23251368

Reference


2012 Schneider, A., David, V.A., Johnson, W.E., O'Brien, S.J., Barsh, G.S., Menotti-Raymond, M., Eizirik, E. :
How the Leopard Hides Its Spots: ASIP Mutations and Melanism in Wild Cats. PLoS One 7:e50386, 2012. Pubmed reference: 23251368. DOI: 10.1371/journal.pone.0050386.

Edit History


  • Created by Frank Nicholas on 05 Jan 2013
  • Changed by Frank Nicholas on 05 Jan 2013