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

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 required column headers

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