OMIA:001601-9615 : XY difference of sexual development, generic in Canis lupus familiaris (dog)

In other species: domestic cat , horse , taurine cattle

Categories: Reproductive system phene

Links to MONDO diseases:

Mendelian trait/disorder: unknown

Considered a defect: yes

Key variant is published: no

Cross-species summary: This phene includes information about XY differences of sexual development (XY DSD) in animals with a normal XY karyotype for which so far no causal variants have been identified. Renamed from 'XY DSD (Disorder of Sexual Development), SRY-positive' [28/09/2023] Renamed from 'Sex reversal: XY female, SRY-positive' [22/10/2021]

Species-specific description: Information relating to differences in sexual development due to variants in the HSD17B3 previously listed here have been moved to OMIA:002777-9615 : XY difference of sexual development, HSD17B3-related 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 ... ." (see OMIA:002777-9615 : XY difference of sexual development, HSD17B3-related in Canis lupus familiaris for details) Krzeminska et al. (2021) "used droplet digital PCR with the aim of determining variability in SRY copy number and its association with DSD in dogs. Altogether 19 DSD male dogs (XY DSD) of 10 breeds and 87 control dogs of eight breeds were analyzed. … Variability of copy number was only observed in Yorkshire Terriers (two or three copies) … . An analysis of six DSD Yorkshire Terriers and 38 control males of this breed showed that 50% of the DSD dogs had two copies, while the incidence of this variant was significantly lower in the control dogs (10.5%). Searching for the copy number of the coding and 5'-flanking fragments revealed full concordance with the copy number. These fragments were also sequenced in DSD (19) and control (24) dogs, and no DNA variants were found. We conclude that, in the dog, two or three functional copies of the SRY gene are present, and a smaller number of copies showed an association with the risk of DSD phenotype in Yorkshire Terriers.”

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Yorkshire Terrier (Dog) (VBO_0201448).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001601-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2022 Krzeminska, P., Nowacka-Woszuk, J., Switonski, M. :
Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Anim Genet 53:152-155, 2022. Pubmed reference: 34664728. DOI: 10.1111/age.13147.
Nowacka-Woszuk, J., Stachowiak, M., Szczerbal, I., Szydlowski, M., Szabelska-Beresewicz, A., Zyprych-Walczak, J., Krzeminska, P., Nowak, T., Lukomska, A., Ligocka, Z., Biezynski, J., Dzimira, S., Nizanski, W., Switonski, M. :
Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics 114:110389, 2022. Pubmed reference: 35597501. DOI: 10.1016/j.ygeno.2022.110389.
2021 Walter, B., Flock, U., Leykam, C., Otzdorff, C., Simmet, K., Hecht, W., Kempker, L., Aupperle-Lellbach, H., Reese, S. :
Serum anti-Müllerian hormone concentration as a diagnostic tool to identify testicular tissue in canine disorders of sexual development. Domest Anim Endocrinol 78:106654, 2021. Pubmed reference: 34509739. DOI: 10.1016/j.domaniend.2021.106654.
2020 Hwang, K.C., Choi, Y.K., Jeong, Y.I., Park, K.B., Choi, E.J., Jeong, Y.W., Hossein, M.S., Hyun, S.H., Jeung, E.B., Hwang, W.S. :
Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males. J Physiol Pharmacol 71, 2020. Pubmed reference: 32991314. DOI: 10.26402/jpp.2020.3.05.
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.
Krzemińska, P., D'Anza, E., Ciotola, F., Paciello, O., Restucci, B., Peretti, V., Albarella, S., Switonski, M. :
Polymorphisms of MAMLD1, SRD5A2, and AR candidate genes in seven dogs (78,XY; SRY-Positive) affected by hypospadias or cryptorchidism. Sex Dev 13:92-98, 2019. Pubmed reference: 31055572. DOI: 10.1159/000500219.
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.
2012 Switonski, M., Payan-Carreira, R., Bartz, M., Nowacka-Woszuk, J., Szczerbal, I., Colaço, B., Pires, M.A., Ochota, M., Nizanski, W. :
Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies. Sex Dev 6:128-34, 2012. Pubmed reference: 21893969. DOI: 10.1159/000330921.

Edit History

  • Created by Frank Nicholas on 26 Nov 2013
  • Changed by Frank Nicholas on 10 Sep 2019
  • Changed by Frank Nicholas on 12 Jun 2020
  • Changed by Imke Tammen2 on 22 Oct 2021
  • Changed by Imke Tammen2 on 28 Sep 2023