GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000643
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 Chow Chow ; Sloughi ; Thai Ridgeback breeds
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
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.705G>C p.Gln235His
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Gln His 235
Authors
Bauer A; Kehl A; Jagannathan V; Leeb T
Abstract
Coat colour dilution may be the result of altered melanosome transport in melanocytes. Loss-of-function variants in the melanophilin gene (MLPH) cause a recessively inherited form of coat colour dilution in many mammalian and avian species including the dog. MLPH corresponds to the D locus in many domestic animals, and recessive alleles at this locus are frequently denoted with d. In this study, we investigated dilute coloured Chow Chows whose coat colour could not be explained by their genotype at the previously known MLPH:c.-22G>A variant. Whole genome sequencing of such a dilute Chow Chow revealed another variant in the MLPH gene: MLPH:c.705G>C. We propose to designate the corresponding mutant alleles at these two variants d and d . We performed an association study in a cohort of 15 dilute and 28 non-dilute Chow Chows. The dilute dogs were all either compound heterozygous d /d or homozygous d /d , whereas the non-dilute dogs carried at least one wildtype allele D. The d allele did not occur in 417 dogs from diverse other breeds. However, when we genotyped a Sloughi family, in which a dilute coloured puppy had been born out of non-dilute parents, we again observed perfect co-segregation of the newly discovered d allele with coat colour dilution. Finally, we identified a blue Thai Ridgeback with the d /d genotype. Thus, our data identify the MLPH:c.705G>C as a variant explaining a second canine dilution allele. Although relatively rare overall, this d allele is segregating in at least three dog breeds, Chow Chows, Sloughis and Thai Ridgebacks.

© 2018 Stichting International Foundation for Animal Genetics.
Additional References
EXTERNAL LINKS
COMMENTS
@Parallelism @AllelicSeries https://omia.org/OMIA000031/9615/
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