OMIA 001279-9615 : Hypotrichosis, recessive in Canis lupus familiaris

In other species: pig

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Recessive form of hair loss.

Mapping: Parker et al. (2017) mapped this trait to a region "greater than 4.8 Mb from chr29 : 15973319–20794824 in the CanFam3.1 assembly".

Molecular basis: Parker et al. (2017) identified a likely causal mutation ("SGK3^Val96GlyfsTer50"): a "deletion [that] removes four bases (TTAG) from chr29 : 16366702–16366705 within exon 4 of the serum/glucocorticoid regulated kinase family member 3 gene (SGK3). This deletion alters the reading frame of the protein at amino acid 96 creating a new protein sequence for 50 amino acids and a premature stop at amino acid 157. This mutation is predicted to knock out the original function of the gene as it removes the entire STKc_SGK3 catalytic domain for which the gene is named. . . . the 4 bp deletion . . . was resequenced in 12 hairless AHT [American Hairless Terrier] and four coated Rat Terriers . . . . All hairless AHT were found to have two copies of the mutation, while the four coated Rat Terriers were wild-type at both alleles".

Hytönen and Lohi (2019) reported "a 1-bp insertion in exon 2 of SGK3 . . . [resulting] . . . in a predicted frameshift and very early truncation (49/490 amino acids) of the SGK3 protein." as a likely causal variant in Scottish Deerhounds.

Prevalence: Hytönen and Lohi (2019) "genotyped the SGK3:c.137_138insT variant . . . in a cohort of Scottish Deerhounds (n = 66) containing two affected dogs, two unaffected dogs, which had produced affected progeny, and 62 other unaffected dogs from our biobank. Both affected dogs were homozygous for the variant and the two obligate carriers were heterozygous, while the rest of the dogs were either heterozygous (n = 6) or homozygous for the wild-type allele (n = 56). These results demonstrate a full segregation of the variant with the disease and indicate a 12% carrier frequency in the studied cohort. We screened the variant also in a related breed, Irish Wolfhound (n = 91), but did not find any carriers, suggesting a breed-specific variant in SD population."

Breeds: American Hairless Terrier, Scottish Deerhound.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SGK3 serum/glucocorticoid regulated kinase family, member 3 Canis lupus familiaris 29 NC_006611.3 (16236197..16418225) SGK3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Scottish Deerhound Hypotrichosis, recessive SGK3 insertion, small (<=20) CanFam 3.1 29 g.16,351,976 c.137_138insT p.Glu47GlyfsTer3 Hytönen and Lohi (2019) Supplementary material 3: ENSCAFT00000011773.3:c.137_138insT; p.Q47fs 2019 30927068
American hairless Hypotrichosis, recessive SGK3 deletion, small (<=20) CanFam3.1 29 g.16366702_16366705delTTAG p.Val96GlyfsTer50 2017 27994129

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Hytönen, M.K., Lohi, H., Hytönen, M.K., Lohi, H. :
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions. Hum Genet :, 2019. Pubmed reference: 30927068. DOI: 10.1007/s00439-019-02005-9.
2017 Parker, H.G., Harris, A., Dreger, D.L., Davis, B.W., Ostrander, E.A. :
The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:, 2017. Pubmed reference: 27994129. DOI: 10.1098/rstb.2015.0488.
1988 Sponenberg, D.P., Scott, E., Scott, W. :
American hairless terriers: a recessive gene causing hairlessness in dogs. J Hered 79:69, 1988. Pubmed reference: 3367039.

Edit History


  • Created by Frank Nicholas on 30 Jan 2017
  • Changed by Frank Nicholas on 30 Jan 2017
  • Changed by Frank Nicholas on 01 Apr 2019