OMIA 001230-9823 : Ovotesticular DSD (Disorder of Sexual Development) in Sus scrofa

In other species: Japanese medaka , dog , domestic cat , horse , cattle , rabbit , wood lemming

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 400044 (trait) , 300018 (trait) , 612965 (trait) , 154230 (trait) , 613080 (trait) , 613762 (trait) , 233420 (trait) , 614279 (trait)

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: no

Cross-species summary: Previously known as Sex reversal: XY female, SRY-negative. The present name (ovotesticular DSD) corresponds to the recommendations on nomenclature for disorders of sexual development (DSD) proposed by Lee et al. (Pediatrics 2006;118;e488; DOI: 10.1542/peds.2006-0738).

Species-specific name: sex-reversal

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

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 26 Jan 2021
  • Changed by Imke Tammen2 on 28 Jan 2021