GEPHE SUMMARY Print
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
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?
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
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?
Taxon B Description
Canis familiaris -"dilute"
Generic Gene Name
ln; l1Rk3; Slac-2a; AW228792; D1Wsu84e; l(1)-3Rk; 2210418F23Rik; 5031433I09Rik; Ln; Slac2a
GO - Molecular Function
GO:0046872 : metal ion binding ... show more
GO - Biological Process
GO:0043473 : pigmentation ... show more
GO - Cellular Component
GO:0015629 : actin cytoskeleton ... show more
SNP Coding Change
Molecular Details of the Mutation
GA substitution at splice donor site causing Splicing defect
|Taxon A||Taxon B||Position|
Drögemüller C; Philipp U; Haase B; Günzel-Apel AR; Leeb T
Coat color dilution in several breeds of dog is characterized by a specific pigmentation phenotype and sometimes accompanied by hair loss and recurrent skin inflammation, the so-called color dilution alopecia or black hair follicular dysplasia. Coat color dilution (d) is inherited as a Mendelian autosomal recessive trait. In a previous study, MLPH polymorphisms showed perfect cosegregation with the dilute phenotype within breeds. However, different dilute haplotypes were found in different breeds, and no single polymorphism was identified in the coding sequence that was likely to be causative for the dilute phenotype. We resequenced the 5'-region of the canine MLPH gene and identified a strong candidate single nucleotide polymorphism within the nontranslated exon 1, which showed perfect association to the dilute phenotype in 65 dilute dogs from 7 different breeds. The A/G polymorphism is located at the last nucleotide of exon 1 and the mutant A-allele is predicted to reduce splicing efficiency 8-fold. An MLPH mRNA expression study using quantitative reverse transcriptase-polymerase chain reaction confirmed that dd animals had only about approximately 25% of the MLPH transcript compared with DD animals. These results provide preliminary evidence that the reported regulatory MLPH mutation might represent a causal mutation for coat color dilution in dogs.
@Splicing @Parallelism @AllelicSeries https://omia.org/OMIA000031/9615/
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