OMIA:000201-9691 : Coat colour, agouti in Panthera pardus

In other species: horse , taurine 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 (donkey) , 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."

Sooriyabandara et al. (2023) "used reference-based assembled nuclear genomes of Sri Lankan wild type and melanistic leopards and de novo assembled mitogenomes ... . ... [The authors] identified a single nucleotide polymorphism in exon-4 Sri Lankan melanistic leopard, which may completely ablate Agouti Signalling Protein (ASIP) function. The wild type leopards in Sri Lanka did not carry this mutation, suggesting the cause for the occurrence of melanistic leopords in the population."

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. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Coat colour, black (black panther) ASIP nonsense (stop-gain) Naturally occurring variant c.333C>A p.(C111*) 2012 23251368
1587 Coat colour, black (black panther) ASIP missense Naturally occurring variant c.353C>A p.(C113F) 2023 37440497

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000201-9691: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2023 Sooriyabandara, M.G.C., Bandaranayake, A.U., Hathurusinghe, H.A.B.M., Jayasundara, S.M., Marasinghe, M.S.R.R.P., Prasad, G.A.T., Abeywardana, V.P.M.K., Pinidiya, M.A., Nilanthi, R.M.R., Bandaranayake, P.C.G. :
A unique single nucleotide polymorphism in Agouti Signalling Protein (ASIP) gene changes coat colour of Sri Lankan leopard (Panthera pardus kotiya) to dark black. PLoS One 18:e0269967, 2023. Pubmed reference: 37440497 . DOI: 10.1371/journal.pone.0269967.
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
  • Changed by Imke Tammen2 on 17 Jul 2023