GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000575
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Cavia porcellus
Trait State in Taxon B
Cavia porcellus
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
domestic guinea pig
Synonyms
Cavia aperea porcellus; Cavia cobaya; domestic guinea pig; guinea pig; Cavia cobya
Rank
species
Lineage
Show more ... omata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Hystricomorpha; Caviidae; Cavia
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
domestic guinea pig
Synonyms
Cavia aperea porcellus; Cavia cobaya; domestic guinea pig; guinea pig; Cavia cobya
Rank
species
Lineage
Show more ... omata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Hystricomorpha; Caviidae; Cavia
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
Yes
Molecular Type
Aberration Type
Molecular Details of the Mutation
Deletion of part or all of gene
Experimental Evidence
Authors
Cone RD; Lu D; Koppula S; Vage DI; Klungland H; Boston B; Chen W; Orth DN; et al. ... show more
Abstract
Molecular cloning experiments have led to the identification and characterization of a family of five receptors for the melanocortin (melanotropic and adrenocorticotropic) peptides. The first two members of the family cloned were the well-characterized melanocyte-stimulating hormone receptor (MSH-R) and adrenocorticotropin receptor (ACTH-R). The three new melanocortin receptors have been termed the MC3-R, MC4-R, and MC5-R, according to the order of their discovery, and little is known at this point concerning their function. Agouti and extension are two genetic loci known to control the amounts of eumelanin (brown-black) and phaeomelanin (yellow-red) pigments. Chromosomal mapping demonstrated that the MSH-R, now termed MCI-R, mapped to extension. Extension was shown to encode the MCI-R, and mutations in the MCI-R are responsible for the different pigmentation phenotypes caused by this locus. Functional variants of the MCI-R, originally characterized in the mouse, have now also been identified in the guinea pig and cow. Dominant constitutive mutants of the MCI-R are responsible for causing dark black coat colors while recessive alleles result in yellow or red coat colors. Agouti, a secreted 108 amino acid peptide produced within the hair follicle, acts on follicular melanocytes to inhibit alpha-MSH-induced eumelanin production. Experiments demonstrate that agouti is a high-affinity antagonist, acting at the MCI-R to block alpha-MSH stimulation of adenylyl cyclase, the effector through which alpha-MSH induces eumelanin synthesis. The MCI-R is thus a unique bifunctionally controlled receptor, activated by alpha-MSH and antagonized by agouti, both contributing to the variability seen in mammalian coat colors. The variable tan and black coat color patterns seen in the German Shepherd, for example, can now be understood on the molecular level as the interaction of a number of extension and agouti alleles encoding variably functioning receptors and a differentially expressed antagonist of the receptor, respectively.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
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