GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002263
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
WT coat
Trait State in Taxon B
Hairless dog breed - Scottish Deerhound (recessive)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
Rank
subspecies
Lineage
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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?
No
Taxon B
Latin Name
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
Rank
subspecies
Lineage
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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?
No
GENOTYPIC CHANGE
Generic Gene Name
Sgk3
Synonyms
fy; fz; Cisk; 2510015P22Rik; A330005P07Rik; Sgkl
String
Sequence Similarities
Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
GO - Molecular Function
GO:0005524 : ATP binding
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GO - Biological Process
GO:0018105 : peptidyl-serine phosphorylation
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GO - Cellular Component
GO:0005654 : nucleoplasm
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
Insertion Size
1-9 bp
Molecular Details of the Mutation
c.137_138insT p.Glu47GlyfsTer3
Experimental Evidence
Authors
Hytönen MK; Lohi H
Abstract
Hairlessness is a breed-specific feature selected for in some dog breeds but a rare abnormality in some others such as Scottish Deerhounds (SD). In SDs, the affected puppies are born with sparse hair but lose it within the first 2 months leaving the dogs completely hairless. The previous studies have implicated variants in FOXI3 and SGK3 in hairlessness; however, the known variants do not explain hairlessness in all breeds such as SDs. We investigated the genetic cause in 66 SDs, including a litter with two hairless dogs. We utilized a combined approach of genome-wide homozygosity mapping and whole-genome sequencing of a hairless SD followed by recessive filtering according to a recessive model against 340 control genomes. Only two homozygous-coding variants were discovered in the homozygosity regions, including a 1-bp insertion in exon 2 of SGK3. This results in a predicted frameshift and very early truncation (49/490 amino acids) of the SGK3 protein. Additional screening of the recessive variant demonstrated a full segregation with the hairlessness and a 12% carrier frequency in the SD breed. The variant was not found in the related Irish Wolfhound breed. This study identifies the second hairless variant in the SGK3 gene in dogs and further highlights its role as a candidate gene for androgen-independent hair loss or alopecia in human.
RELATED GEPHE
Related Genes
Related Haplotypes
EXTERNAL LINKS
COMMENTS
@AllelicSeries https://omia.org/OMIA001279/9615/ GWAS-like analysis on pedigreed family in 2020
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