XY sex reversal, SRY-related
Phenotype Details
- Phene ID
- 2138
- Name
- XY sex reversal, SRY-related
- Phene Name
- N/A
- OMIA ID
- 1230
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 1996
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| SRY | 280931 | Y | sex determining region Y |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 920 | Ovotesticular DSD (Disorder of Sexual Development) | 280931 | 1 | Y | N/A | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
| Jersey (Cattle) | 46 | 9913 | http://purl.obolibrary.org/obo/VBO_0000250 |
Molecular Genetics
Using a comparative candidate-gene strategy (based on the homologous disorder in other species), Kawakura et al. (1996) showed that the SRY gene was absent in three XY female cattle from Japan (one each of Holstein Friesian, Japanese Black and Jersey breed). The authors concluded that these cases of sex reversal were due to a deletion of the SRY gene.