GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002331
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Canis familiaris - various breeds
Trait State in Taxon B
Canis familiaris -"dilute" in various breeds including Chihuahua ; Pekingese
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
gray wolf
Synonyms
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
Rank
subspecies
Lineage
Show more ... tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis; Canis lupus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Canis familiaris -"dilute"
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
Insertion Size
1-9 bp
Molecular Details of the Mutation
c.667_668insC p.(His223Profs*41)
Experimental Evidence
Authors
Van Buren SL; Minor KM; Grahn RA; Mickelson JR; Grahn JC; Malvick J; Colangelo JR; Mueller E; et al. ... show more
Abstract
Altered melanosome transport in melanocytes, resulting from variants in the melanophilin (MLPH) gene, are associated with inherited forms of coat color dilution in many species. In dogs, the MLPH gene corresponds to the D locus and two variants, c.-22G > A (d) and c.705G > C (d), leading to the dilution of coat color, as described. Here, we describe the independent investigations of dogs whose coat color dilution could not be explained by known variants, and who report a third MLPH variant, (c.667_668insC) (d), which leads to a frameshift and premature stop codon (p.His223Profs*41). The d allele is found at low frequency in multiple dog breeds, as well as in wolves, wolf-dog hybrids, and indigenous dogs. Canids in which the d allele contributed to the grey (dilute) phenotype were d/d compound heterozygotes or d homozygotes, and all non-dilute related dogs had one or two D alleles, consistent with a recessive inheritance. Similar to other loci responsible for coat colors in dogs, this, alongside likely additional allelic heterogeneity at the D locus, or other loci, must be considered when performing and interpreting genetic testing.
Additional References
EXTERNAL LINKS
COMMENTS
@Parallelism @AllelicSeries https://omia.org/OMIA000031/9615/
YOUR FEEDBACK is welcome!