OMIA:001279-9615 : Hypotrichosis, recessive in Canis lupus familiaris (dog)
In other species: pig
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 607591 (gene)
Links to MONDO diseases: No links.
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 lack of hair growth
Species-specific name: Recessive hairlessness, congenital alopecia
Inheritance: Sponenberg et al. (1988) reported matings of haired American Rat Terriers and American Hairless Terriers (AHT, the first AHT is from a litter American Rat Terriers) and concluded that the results were consistent with an autosomal recessive inheritance.
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. Parker et al. (2020) provided independent confirmation of this likely causal variant in Scottish Deerhounds.
Clinical features: American Hairless Terrier puppies are born with a sparse downy coat of hair that is lost within the first months of life and not replaced. Whiskers and eyebrows are present (Sponenberg et al., 1988). The 2 Scottish Deerhound puppies reported by Hytönen & Lohi (2019) "were born with sparse hair, but lost it completely within the first 2 months of life." Parker et al. (2020) identified the condition in an independent Scottish Deerhound family and noted that "puppies displayed either a normal, full coat or a sparse and receding coat ... . In those who initially had hair but went bald, the coat progressively thinned early in life and was completely gone by five weeks."
Hairless dogs in both breeds are described as otherwise generally healthy (Parker et al., 2017; Hytönen & Lohi, 2019; Parker et al., 2020), but hairlessness is considered non desirable in the Scottish Deerhound.
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."
American Hairless Terrier,
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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
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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1063||Scottish Deerhound||Hypotrichosis, recessive||SGK3||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||29||g.16351976_16351977insT||c.137_138insT||p.(E47Gfs*3)||NM_001190428.1; NP_001177357.1||2019||30927068||Genomic position in CanFam3.1 provided by Mateo Etcheveste and Robert Kuhn.|
|564||American Hairless Terrier||Hypotrichosis, recessive||SGK3||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||29||g.16366702_16366705del||c.287_290delTTAG||p.(V96Gfs*50)||2017||27994129|
Cite this entry
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.
|2023||Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :|
|Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787 . DOI: 10.1186/s13059-023-03023-7.|
|Welle, M.M. :|
|Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid. Vet Pathol :3009858231170295, 2023. Pubmed reference: 37191329 . DOI: 10.1177/03009858231170295.|
|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 SGK3 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 372:20150488, 2017. Pubmed reference: 27994129 . DOI: 10.1098/rstb.2015.0488.|
|2006||Mecklenburg, L. :|
|An overview on congenital alopecia in domestic animals. Vet Dermatol 17:393-410, 2006. Pubmed reference: 17083571 . DOI: 10.1111/j.1365-3164.2006.00544.x.|
|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
- Changed by Imke Tammen2 on 19 May 2023