OMIA:001230-9796 : XY sex reversal, SRY-related in Equus caballus (horse) |
In other species: pig , 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
Mode of inheritance: Y-linked
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1995
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'
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in other species), Pailhoux et al. (1995) showed that "at least the DNA-binding domain of the SRY gene was deleted from the Y chromosome of the XY mare". Raudsepp et al. (2010) reported molecular heterogeneity in 13 cases of Y-linked XY sex reversal, all of which included deletion of the SRY gene: "the smallest deletions spanned about 21 kb, while the largest involved the entire euchromatic region".
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SRY | sex determining region Y | Equus caballus | - | no genomic information (-..-) | SRY | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 659 | American Trotter (Horse) | XY sex reversal | SRY | deletion, gross (>20) | Naturally occurring variant | Y | "at least the DNA-binding domain of the SRY gene was deleted from the Y chromosome of the XY mare" | 1995 | 7558880 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001230-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2022 | Castaneda, C., Radović, L., Felkel, S., Juras, R., Davis, B.W., Cothran, E.G., Wallner, B., Raudsepp, T. : |
| Copy number variation of horse Y chromosome genes in normal equine populations and in horses with abnormal sex development and subfertility: relationship of copy number variations with Y haplogroups. G3 (Bethesda) 12:jkac278, 2022. Pubmed reference: 36227030. DOI: 10.1093/g3journal/jkac278. | |
| 2010 | Raudsepp, T., Durkin, K., Lear, T.L., Das, P.J., Avila, F., Kachroo, P., Chowdhary, B.P. : |
| Molecular heterogeneity of XY sex reversal in horses. Anim Genet 41 Suppl 2:41-52, 2010. Pubmed reference: 21070275. DOI: 10.1111/j.1365-2052.2010.02101.x. | |
| 2003 | Bugno, M., Klukowska, J., Slota, E., Tischner, M., Switonski, M. : |
| A sporadic case of the sex-reversed mare (64,XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome Theriogenology 59:1597-603, 2003. Pubmed reference: 12559464. | |
| 1999 | Abe, S., Miyake, Y.I., Kageyama, S.I., Watanabe, G., Taya, K., Kawakura, K. : |
| Deletion of the Sry region on the Y chromosome detected in a case of equine gonadal hypoplasia (XY female) with abnormal hormonal profiles. Equine Vet J 31:336-8, 1999. Pubmed reference: 10454094. | |
| Mäkinen, A., Hasegawa, T., Mäkilä, M., Katila, T. : | |
| Infertility in two mares with XY and XXX sex chromosomes. Equine Vet J 31:346-9, 1999. Pubmed reference: 10454097. DOI: 10.1111/j.2042-3306.1999.tb03829.x. | |
| 1995 | Pailhoux, E., Cribiu, E.P., Parma, P., Cotinot, C. : |
| Molecular analysis of an XY mare with gonadal dysgenesis Hereditas 122:109-112, 1995. Pubmed reference: 7558880. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 11 Sep 2011
- Changed by Frank Nicholas on 08 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 31 Aug 2012
- Changed by Frank Nicholas on 31 Dec 2015
- Changed by Frank Nicholas on 05 Mar 2020
- Changed by Imke Tammen2 on 01 Oct 2023