OMIA:001230-9796 : Ovotesticular DSD (Disorder of Sexual Development) in Equus caballus
In other species: Japanese medaka , dog , domestic cat , pig , Western roe deer , cattle , rabbit , wood lemming
Categories: Reproductive system phene
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) , 480000 (gene)
Links to MONDO diseases: No links.
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: 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).
Markers: Ghosh et al. (2020) "characterized a homozygous ~200 kb deletion in ECA29 as a risk factor for equine DSDs and reproductive disorders. These conclusions were based on the following notions: i) the deletion eliminates functionally relevant AKR1C genes, which have been associated with DSDs in humans; ii) the frequency of the deletion was higher in abnormal horses (8–9%) compared to normal population (1–5%), and iii) the majority (79%) of horses with the homozygous deletion were phenotypically abnormal. Even though denoted as a risk factor because of difficulties to establish statistically sound causative genotype–phenotype relationship, the findings add to the currently very short list of genomic regions underlying equine disorders of sex development and reproduction". Given the obvious and well-informed caution of the authors, this variant has not been tabulated as a likely causal variant.
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".
|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|
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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)||Ovotesticular DSD (Disorder of Sexual Development)||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|
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.|
|2021||Pirosanto, Y., Laseca, N., Valera, M., Molina, A., Moreno-Millán, M., Bugno-Poniewierska, M., Ross, P., Azor, P., Demyda-Peyrás, S. :|
|Screening and detection of chromosomal copy number alterations in the domestic horse using SNP-array genotyping data. Anim Genet 52:431-439, 2021. Pubmed reference: 34013628 . DOI: 10.1111/age.13077.|
|2020||Ghosh, S., Davis, B.W., Rosengren, M., Jevit, M.J., Castaneda, C., Arnold, C., Jaxheimer, J., Love, C.C., Varner, D.D., Lindgren, G., Wade, C.M., Raudsepp, T. :|
|Characterization of A Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as A Risk Factor for Disorders of Sex Development and Reproduction. Genes (Basel) 11:, 2020. Pubmed reference: 32120906 . DOI: 10.3390/genes11030251.|
|2018||Neuhauser, S., Handler, J., Schelling, C., Pieńkowska-Schelling, A., Neuhauser, S., Handler, J., Schelling, C., Pieńkowska-Schelling, A. :|
|Disorder of Sexual Development in a Mare with an Unusual Tentative Mosaic Karyotype: 63,X/64,Xdel(Y). Sex Dev :, 2018. Pubmed reference: 30071527 . DOI: 10.1159/000490861.|
|2012||Pujar, S., Meyers-Wallen, V. :|
|Sequence variations in equine candidate genes for XX and XY inherited disorders of sexual development. Reprod Domest Anim 47:827-834, 2012. Pubmed reference: 22239239 . DOI: 10.1111/j.1439-0531.2011.01976.x.|
|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 .|
|2001||Cadario, M.E. :|
|Case notes and commentary: XY sex reversal in mares: testicular feminization or gonadal/ovarian dysgenesis? Compendium on Continuing Education for the Practicing Veterinarian 23:753-+, 2001.|
|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 Veterinary Journal 31:336-338, 1999. Pubmed reference: 10454094 .|
|Makinen, A., Hasegawa, T., Makila, M., Katila, T. :|
|Infertility in two mares with XY and XXX sex chromosomes Equine Veterinary Journal 31:346-349, 1999. Pubmed reference: 10454097 .|
|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 .|
|1993||Nie, G.J., Momont, H.W., Buoen, L. :|
|A Survey of Sex Chromosome Abnormalities in 204 Mares Selected for Breeding Journal of Equine Veterinary Science 13:456-459, 1993.|
|1988||Kent, M.G., Shoffner, R.N., Hunter, A., Elliston, K.O., Schroder, W., Tolley, E., Wachtel, S.S. :|
|XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype Human Genetics 79:321-328, 1988. Pubmed reference: 3410457 .|
|Kent, M.G., Elliston, K.O., Schroeder, W., Guise, K.S., Wachtel, S.S. :|
|Conserved repetitive DNA sequences (Bkm) in normal equine males and sex-reversed females detected by in situ hybridization Cytogenetics and Cell Genetics 48:99-102, 1988. Pubmed reference: 3197456 .|
|1987||Bowling, A.T., Millon, L., Hughes, J.P. :|
|An update of chromosomal abnormalities in mares Journal of Reproduction and Fertility :149-155, 1987. Pubmed reference: 3479571 .|
|1986||Kent, M.G., Shoffner, R.N., Bouen, L., Weber, A.F. :|
|XY sex-reversal syndrome in the domestic horse Cytogenetics and Cell Genetics 42:8-18, 1986. Pubmed reference: 3720361 .|
|Power, M.M. :|
|XY sex reversal in a mare. Equine Vet J 18:233-6, 1986. Pubmed reference: 3732247 .|
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