OMIA:000201-9691 : Coat colour, agouti in Panthera pardus
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 , Asiatic golden cat , leopard cat , ass , 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: 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. 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".
Inheritance: Robinson (1969, 1970) provided evidence of autosomal recessive inheritance of the melanistic phenotype, based on the breeding records of 439 animals.
Molecular basis: By sequencing the candidate gene ASIP in "wild-type" non-melanistic leopards and melanistic leopards ("black panthers"), Schneider et al. (2012) showed that the "black panther" phenotype is due to a "non-synonymous mutation located in exon 4 (C333A) predicted to introduce a stop codon at amino acid position 111. All 11 analyzed melanistic leopards . . . were homozygous for this mutation, while the wild-type individuals (i.e. bearing a yellowish background coloration with black rosettes; . . .) were either homozygous for the ancestral ‘A’ allele or heterozygous."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||Panthera pardus||-||no genomic information (-..-)||ASIP||Ensembl|
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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|
|333||Black panther||ASIP||nonsense (stop-gain)||Naturally occurring variant||c.333C>A||p.(C111*)||2012||23251368|
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.
|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.|
|1970||Robinson, R. :|
|Inheritance of the black form of the leopard Panthera pardus. Genetica 41:190-7, 1970. Pubmed reference: 5480762 .|
|1969||Robinson, R. :|
|The breeding of spotted and black leopards. Journal of the Bombay Natural History Society 66:423-429, 1969.|
- Changed by Frank Nicholas on 05 Jan 2013
- Created by Frank Nicholas on 05 Jan 2013
- Changed by Frank Nicholas on 30 Aug 2016