GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000065
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Panthera pardus
Trait State in Taxon B
Panthera pardus - melanic
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
leopard
Synonyms
Leo pardus; leopard
Rank
species
Lineage
Show more ... ata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Pantherinae; Panthera
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
leopard
Synonyms
Leo pardus; leopard
Rank
species
Lineage
Show more ... ata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Pantherinae; Panthera
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsense
Molecular Details of the Mutation
nonsense mutation located in exon 4 (C333A) predicted to introduce a stop codon at amino acid position 111
Experimental Evidence
Taxon A Taxon B Position
Codon TGC TGA 333
Amino-acid Cys STP -
Authors
Schneider A; David VA; Johnson WE; O'Brien SJ; Barsh GS; Menotti-Raymond M; Eizirik E
Abstract
The occurrence of melanism (darkening of the background coloration) is documented in 13 felid species, in some cases reaching high frequencies at the population level. Recent analyses have indicated that it arose multiple times in the Felidae, with three different species exhibiting unique mutations associated with this trait. The causative mutations in the remaining species have so far not been identified, precluding a broader assessment of the evolutionary dynamics of melanism in the Felidae. Among these, the leopard (Panthera pardus) is a particularly important target for research, given the iconic status of the 'black panther' and the extremely high frequency of melanism observed in some Asian populations. Another felid species from the same region, the Asian golden cat (Pardofelis temminckii), also exhibits frequent records of melanism in some areas. We have sequenced the coding region of the Agouti Signaling Protein (ASIP) gene in multiple leopard and Asian golden cat individuals, and identified distinct mutations strongly associated with melanism in each of them. The single nucleotide polymorphism (SNP) detected among the P. pardus individuals was caused by a nonsense mutation predicted to completely ablate ASIP function. A different SNP was identified in P. temminckii, causing a predicted amino acid change that should also induce loss of function. Our results reveal two additional cases of species-specific mutations implicated in melanism in the Felidae, and indicate that ASIP mutations may play an important role in naturally-occurring coloration polymorphism.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
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