GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000055
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Peromyscus polionotus
Trait State in Taxon B
Peromyscus polionotus - New Hampshire; melanic
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Common Name
oldfield mouse
Synonyms
oldfield mouse
Rank
species
Lineage
Show more ... eostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Cricetidae; Neotominae; Peromyscus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
oldfield mouse
Synonyms
oldfield mouse
Rank
species
Lineage
Show more ... eostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Cricetidae; Neotominae; Peromyscus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Peromyscus polionotus - New Hampshire; melanic
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
100-1000 kb
Molecular Details of the Mutation
125kb deletion including 5' CDS of Agouti
Experimental Evidence
Authors
Kingsley EP; Manceau M; Wiley CD; Hoekstra HE
Abstract
Identifying the molecular basis of phenotypes that have evolved independently can provide insight into the ways genetic and developmental constraints influence the maintenance of phenotypic diversity. Melanic (darkly pigmented) phenotypes in mammals provide a potent system in which to study the genetic basis of naturally occurring mutant phenotypes because melanism occurs in many mammals, and the mammalian pigmentation pathway is well understood. Spontaneous alleles of a few key pigmentation loci are known to cause melanism in domestic or laboratory populations of mammals, but in natural populations, mutations at one gene, the melanocortin-1 receptor (Mc1r), have been implicated in the vast majority of cases, possibly due to its minimal pleiotropic effects. To investigate whether mutations in this or other genes cause melanism in the wild, we investigated the genetic basis of melanism in the rodent genus Peromyscus, in which melanic mice have been reported in several populations. We focused on two genes known to cause melanism in other taxa, Mc1r and its antagonist, the agouti signaling protein (Agouti). While variation in the Mc1r coding region does not correlate with melanism in any population, in a New Hampshire population, we find that a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression and is perfectly associated with melanic color. In a second population from Alaska, we find that a premature stop codon in exon 3 of Agouti is associated with a similar melanic phenotype. These results show that melanism has evolved independently in these populations through mutations in the same gene, and suggest that melanism produced by mutations in genes other than Mc1r may be more common than previously thought.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
2
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