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OMIA:002777-9615 : XY difference of sexual development, HSD17B3-related in Canis lupus familiaris (dog)

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 264300 (trait) , 605573 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2019

Cross-species summary: This is a type of XY difference of sexual development (XY DSD) due to variants in the HSD17B3 gene. "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." [ NCIT : C120203 ]

Species-specific description: Information about this condition was previously included under OMIA:001601-9615 : XY differences of sexual development, generic in Canis lupus familiaris [28/09/2023]

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."

Breed: Dachshund (Dog) (VBO_0200406).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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

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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 Year Published PubMed ID(s) Acknowledgements
1095 Dachshund (Dog) Disorder of sexual development, HSD17B3-related HSD17B3 deletion, small (<=20) Naturally occurring variant CanFam3.1 1 g.70554301_70554302del c.159_160del p.(T54Wfs*13) XM_003638870.2; XP_003638918.1; deletion CA 2019 31476086
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002777-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2019 Krzeminska, P., Nizanski, W., Nowacka-Woszuk, J., Switonski, M., 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 50:705-711, 2019. Pubmed reference: 31476086. DOI: 10.1111/age.12850.

Edit History


  • Created by Imke Tammen2 on 28 Sep 2023
  • Changed by Imke Tammen2 on 28 Sep 2023