OMIA:001230-9823 : XY sex reversal, SRY-related in Sus scrofa (pig) |
In other species: horse , Western roe deer , taurine cattle , sheep , rabbit
Categories: Reproductive system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 400044 (trait) , 480000 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Cross-species summary: This is type of XY difference of sexual development (XY DSD) due to variation in the SRY gene. In humans called 46,XY sex reversal 1. Renamed in OMIA from "Ovotesticular DSD (Disorder of Sexual evelopment)" [29/09/2023]. Previously this phene ID was named in OMIA 'Sex reversal: XY female, SRY-negative'
Species-specific description: Kurtz et al. (2021) "successfully generated a knockout of the porcine SRY gene by microinjection of two CRISPR-Cas ribonucleoproteins, targeting the centrally located "high mobility group" (HMG), followed by a frameshift mutation of the downstream SRY sequence. This resulted in the development of genetically male (XY) pigs with complete external and internal female genitalia, which, however, were significantly smaller than in 9-mo-old age-matched control females. Quantitative digital PCR analysis revealed a duplication of the SRY locus in Landrace pigs similar to the known palindromic duplication in Duroc breeds. Our study demonstrates the central role of the HMG domain in the SRY gene in male porcine sex determination." These animals are considered genetically-modified organisms (GMO).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SRY | sex determining region Y | Sus scrofa | Y | NC_010462.3 (40485700..40484990) | SRY | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001230-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2021 | Kurtz, S., Lucas-Hahn, A., Schlegelberger, B., Göhring, G., Niemann, H., Mettenleiter, T.C., Petersen, B. : |
| Knockout of the HMG domain of the porcine SRY gene causes sex reversal in gene-edited pigs. Proc Natl Acad Sci U S A 118:, 2021. Pubmed reference: 33443157 . DOI: 10.1073/pnas.2008743118. |
Edit History
- Created by Imke Tammen2 on 01 Oct 2023