The detail information of Sex reversal: XY female, SRY-positive
OMIA Basic Information
Possible human homologues (MIM numbers): -
Mendelian trait/disorder: yes
Mode of inheritance: -
Considered a defect: yes
Year key mutation first reported: 2019
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| HSD17B3 | hydroxysteroid (17-beta) dehydrogenase 3 | Canis lupus familiaris | Chr1 : 73607891 - 73642437 | Homologene, Ensembl, NCBI gene |
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.,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 . |
| 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 . |