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 , Geoffroy's cat , Arabian camel

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.

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."

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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 panther ASIP nonsense (stop-gain) c.333C>A p.C111* 2012 23251368

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.
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.

Edit History


  • Created by Frank Nicholas on 05 Jan 2013
  • Changed by Frank Nicholas on 05 Jan 2013
  • Changed by Frank Nicholas on 30 Aug 2016