GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000593
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Panthera onca
Trait State in Taxon B
Panthera onca - black
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
jaguar
Synonyms
jaguar
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
Latin Name
Common Name
jaguar
Synonyms
jaguar
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
Generic Gene Name
MC1R
Synonyms
CMM5; MSH-R; SHEP2; MSHR
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
10-99 bp
Molecular Details of the Mutation
Deletion of aa 101-105 and L106T
Experimental Evidence
Authors
Eizirik E; Yuhki N; Johnson WE; Menotti-Raymond M; Hannah SS; O'Brien SJ
Abstract
Melanistic coat coloration occurs as a common polymorphism in 11 of 37 felid species and reaches high population frequency in some cases but never achieves complete fixation. To investigate the genetic basis, adaptive significance, and evolutionary history of melanistic variants in the Felidae, we mapped, cloned, and sequenced the cat homologs of two putative candidate genes for melanism (ASIP [agouti] and MC1R) and identified three independent deletions associated with dark coloration in three different felid species. Association and transmission analyses revealed that a 2 bp deletion in the ASIP gene specifies black coloration in domestic cats, and two different "in-frame" deletions in the MC1R gene are implicated in melanism in jaguars and jaguarundis. Melanistic individuals from five other felid species did not carry any of these mutations, implying that there are at least four independent genetic origins for melanism in the cat family. The inferred multiple origins and independent historical elevation in population frequency of felid melanistic mutations suggest the occurrence of adaptive evolution of this visible phenotype in a group of related free-ranging species.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
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