GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001733
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Geoffroy’s cat
Trait State in Taxon B
Geoffroy’s cat - melanistic
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
Geoffroy's cat
Synonyms
Felis geoffroyi; Oncifelis geoffroyi; Geoffroy's cat; Oncifelis geoffroyi (d'Orbigny & Gervais, 1844); Oncifelis geoffrovi
Rank
species
Lineage
Show more ... tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Leopardus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
Geoffroy's cat
Synonyms
Felis geoffroyi; Oncifelis geoffroyi; Geoffroy's cat; Oncifelis geoffroyi (d'Orbigny & Gervais, 1844); Oncifelis geoffrovi
Rank
species
Lineage
Show more ... tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Leopardus
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
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
All melanistic individuals were heterozygous for four variants that predicted three nonsynonymous substitutions, p.C125R, p.T177I, and p.G194S - In the laboratory mouse a Cys to Arg substitution at the site homologous to felid residue 125 causes constitutive activation of the receptor and the exact same change is thought to be responsible for melanism in the Alaska silver fox - therefore C125R is considered to be the likely causative alteration in the Geoffroy’s cat.
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Cys Arg 125
Authors
Schneider A; Henegar C; Day K; Absher D; Napolitano C; Silveira L; David VA; O'Brien SJ; et al. ... show more
Abstract
Morphological variation in natural populations is a genomic test bed for studying the interface between molecular evolution and population genetics, but some of the most interesting questions involve non-model organisms that lack well annotated reference genomes. Many felid species exhibit polymorphism for melanism but the relative roles played by genetic drift, natural selection, and interspecies hybridization remain uncertain. We identify mutations of Agouti signaling protein (ASIP) or the Melanocortin 1 receptor (MC1R) as independent causes of melanism in three closely related South American species: the pampas cat (Leopardus colocolo), the kodkod (Leopardus guigna), and Geoffroy's cat (Leopardus geoffroyi). To assess population level variation in the regions surrounding the causative mutations we apply genomic resources from the domestic cat to carry out clone-based capture and targeted resequencing of 299 kb and 251 kb segments that contain ASIP and MC1R, respectively, from 54 individuals (13-21 per species), achieving enrichment of ~500-2500-fold and ~150x coverage. Our analysis points to unique evolutionary histories for each of the three species, with a strong selective sweep in the pampas cat, a distinctive but short melanism-specific haplotype in the Geoffroy's cat, and reduced nucleotide diversity for both ancestral and melanism-bearing chromosomes in the kodkod. These results reveal an important role for natural selection in a trait of longstanding interest to ecologists, geneticists, and the lay community, and provide a platform for comparative studies of morphological variation in other natural populations.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
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