GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000596
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Sciurus carolinensis
Trait State in Taxon B
Sciurus carolinensis
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
gray squirrel
Synonyms
gray squirrel; eastern gray squirrel; Sciurus carolinensis Gmelin, 1788; Sciurus carolinensus
Rank
species
Lineage
Show more ... eleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Sciuromorpha; Sciuridae; Sciurinae; Sciurini; Sciurus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
gray squirrel
Synonyms
gray squirrel; eastern gray squirrel; Sciurus carolinensis Gmelin, 1788; Sciurus carolinensus
Rank
species
Lineage
Show more ... eleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Sciuromorpha; Sciuridae; Sciurinae; Sciurini; Sciurus
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 8 a.a.
Experimental Evidence
Authors
McRobie H; Thomas A; Kelly J
Abstract
The black squirrel is a melanic variant of the gray squirrel (Sciurus carolinensis). We found 3 coat color variants in the gray squirrel: the wild-type gray, a jet-black, and a brown-black phenotype. These 3 morphs are due to varying distributions of eumelanin and phaeomelanin pigment in hairs. The melanocortin 1 receptor (MC1R) plays a central role in regulating eumelanin and phaeomelanin production. We sequenced the MC1R gene for all 3 coat color phenotypes and found a 24 base-pair deletion. The gray phenotype was homozygous for the wild-type allele E(+), the jet-black phenotype was homozygous for the MC1R-Delta24 allele E(B), and the brown-black phenotype was heterozygous for the E(+) and E(B) alleles. We conclude that melanism in gray squirrels is associated with the MC1R-Delta24 E(B) allele at amino acid positions 87-94 and that this allele is incompletely dominant to the wild-type allele. We predict that the MC1R-Delta24 E(B) allele encodes a constitutively active or hyperactive receptor.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
YOUR FEEDBACK is welcome!