OMIA 001279-9615 : Hypotrichosis, recessive in Canis lupus familiaris
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. Parker et al. (2020) provided independent confirmation of this 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_051833.1 (16355030..16498290)||SGK3||Homologene, Ensembl, NCBI gene|
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)||CanFam3.1||29||c.137_138insT||p.Glu47GlyfsTer3||Hytönen and Lohi (2019) Supplementary material 3: ENSCAFT00000011773.3:c.137_138insT; p.Q47fs 200922: g. info moved to here (g.16,351,976) until it can be standardised||2019||30927068|
|American Hairless||Hypotrichosis, recessive||SGK3||deletion, small (<=20)||CanFam3.1||29||g.16366702_16366705delTTAG||c.287_290delTTAG||p.Val96GlyfsTer50||2017||27994129|
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.
|2020||Parker, H.G., Whitaker, D.T., Harris, A.C., Ostrander, E.A. :|
|Whole Genome Analysis of a Single Scottish Deerhound Dog Family Provides Independent Corroboration That a <i>SGK3</i> Coding Variant Leads to Hairlessness. G3 (Bethesda) 10:293-297, 2020. Pubmed reference: 31727632. DOI: 10.1534/g3.119.400885.|
|2019||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 138:535-539, 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.|
- Created by Frank Nicholas on 30 Jan 2017
- Changed by Frank Nicholas on 30 Jan 2017
- Changed by Frank Nicholas on 01 Apr 2019
- Changed by Frank Nicholas on 30 Jan 2020