OMIA 001601-9615 : Sex reversal: XY female, SRY-positive in Canis lupus familiaris

In other species: horse

Mendelian trait/disorder: unknown

Considered a defect: yes

Year key variant first reported: 2019

Molecular basis: Krzeminska et al. (2019): "The entire coding sequence and flanking regions of the introns, 5′‐UTR and 3′‐UTR [of "six genes of the testosterone pathway, encoding enzymes (CYP17A1, HSD3B2, HSD17B3, SRD5A2) and transcription factors (NR5A1, AR)"] were analyzed in five DSD dogs (78,XY, SRY‐positive) with ambiguous external genitalia and in 15 control dogs. A homozygous deletion of 2 bp in exon 2 of HSD17B3 (hydroxysteroid 17‐beta dehydrogenase 3) was found in a Dachshund dog with enlarged clitoris, vulva and abdominal gonads and decreased serum testosterone level. In silico analysis revealed that this deleterious variant causes truncation of the encoded polypeptide (from 306 to 65 amino acids) and deprivation of the active site of the encoded enzyme. Genotyping of 23 control Dachshund dogs showed a normal homozygous genotype. Thus, we assumed that the 2‐bp deletion is the causative variant."

Breeds: Dachshund, Yorkshire Terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 Canis lupus familiaris 1 NC_006583.2 (73607891..73642437) HSD17B3 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
Dachshund Disorder of sexual development, 78,XY, SRY-positive HSD17B3 deletion, small (<=20) CanFam3.1 1 g.70,554,301_70,554,302delCA 2019 31476086

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 Krzeminska, P., Nizanski, W., Nowacka-Woszuk, J., Switonski, M. :
Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet :, 2019. Pubmed reference: 31476086. DOI: 10.1111/age.12850.
2013 Dianovský, J., Holečková, B., Hajurka, J., Šiviková, K., Cigánková, V. :
Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet 54:193-9, 2013. Pubmed reference: 23378246. DOI: 10.1007/s13353-013-0137-1.

Edit History


  • Created by Frank Nicholas on 26 Nov 2013
  • Changed by Frank Nicholas on 10 Sep 2019