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OMIA:001230-9940 : XY sex reversal, SRY-related in Ovis aries (sheep)

In other species: horse , pig , Western roe deer , taurine cattle , rabbit

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 400044 (trait) , 480000 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2023

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 name: 54,XY sex reversal, SRY-related

Species-specific description: Information previously listed under OMIA:002753-9940 [01/10/1023]

Molecular basis: Heidari et al. (2023) investigated a hermaphroditic Shal sheep with an XY karyotype and detected a possible causal single nucleotide substitution in the promoter region of the SRY gene (AF026566.1:299T>G).

Breed: Shal, Iran (Islamic Republic of) (Sheep) (VBO_0016099).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SRY sex determining region Y Ovis aries - no genomic information (-..-) SRY Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001230-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Heidari, F., Rahbaran, M., Mirzaei, A., Mozafari Tabatabaei, M., Shokrpoor, S., Mahjoubi, F., Ara, M.S., Akbarinejad, V., Gharagozloo, F. :
The study of a hermaphroditic sheep caused by a mutation in the promoter of SRY gene. Vet Anim Sci 21:100308, 2023. Pubmed reference: 37593675. DOI: 10.1016/j.vas.2023.100308.

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  • Created by Imke Tammen2 on 01 Oct 2023