OMIA 001279-9615 : Hypotrichosis, recessive in Canis lupus familiaris |
In other species:
pig
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
146520
,
146550
,
183849
,
211370
,
246500
,
250460
,
278200
,
301845
,
203655
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".
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
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| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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.
| 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