GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002072
Main curator
II
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Shetland Sheepdog of wild-type color - nonmerle
Trait State in Taxon B
Shetland Sheepdog of merle color - patches of diluted pigment - autosomal and incompletely dominant
Ancestral State
Taxon A
Taxonomic Status
Taxon A
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 A an Infraspecies?
Yes
Taxon A Description
Shetland Sheepdog
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
Shetland Sheepdog
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
Insertion Size
100-999 bp
Molecular Details of the Mutation
due to a short interspersed element (SINE) insertion at the intron 10/exon 11 boundary. The SINE segregates with the merle phenotype in multiple breeds (Collie, Border Collie, Australian Shepherd, Cardigan Welsh Corgi, Dachshund, and Great Dane) and is absent from dogs representing breeds that do not have merle patterning. All examined harlequin Great Danes harbored the insertion in either a heterozygous or homozygous state.
Experimental Evidence
Authors
Clark LA; Wahl JM; Rees CA; Murphy KE
Abstract
Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by patches of diluted pigment. This trait is inherited in an autosomal, incompletely dominant fashion. Dogs heterozygous or homozygous for the merle locus exhibit a wide range of auditory and ophthalmologic abnormalities, which are similar to those observed for the human auditory-pigmentation disorder Waardenburg syndrome. Mutations in at least five genes have been identified as causative for Waardenburg syndrome; however, the genetic bases for all cases have not been determined. Linkage disequilibrium was identified for a microsatellite marker with the merle phenotype in the Shetland Sheepdog. The marker is located in a region of CFA10 that exhibits conservation of synteny with HSA12q13. This region of the human genome contains SILV, a gene important in mammalian pigmentation. Therefore, this gene was evaluated as a candidate for merle patterning. A short interspersed element insertion at the boundary of intron 10/exon 11 was found, and this insertion segregates with the merle phenotype in multiple breeds. Another finding was deletions within the oligo(dA)-rich tail of the short interspersed element. Such deletions permit normal pigmentation. These data show that SILV is responsible for merle patterning and is associated with impaired function of the auditory and ophthalmologic systems. Although the mutant phenotype of SILV in the human is unknown, these results make it an intriguing candidate gene for human auditory-pigmentation disorders.
Additional References
EXTERNAL LINKS
COMMENTS
@TE - PMEL17 is also known as SILV and gp100 - Dogs heterozygous or homozygous for the merle locus exhibit a wide range of auditory and ophthalmologic abnormalities. Dogs homozygous for merle (MM) are known as double merles and are predominantly white - reversion rate (excision of the TE and reversion to the nonmerle color, which is then stable through the next progeny) in the germ line is quite high: 3–4%. @Pleiotropy with deleterious effect similar to the human auditory–pigmentation disorder Waardenburg syndrome @HeterozygoteAdvantage @AllelicSeries https://omia.org/OMIA000211/9615/
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