OMIA:001230-9913 : Ovotesticular DSD (Disorder of Sexual Development) in Bos taurus
In other species: horse , wood lemming , domestic cat , Japanese medaka , dog , rabbit , pig , Western roe deer
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: 1996
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).
Molecular basis: Using a comparative candidate-gene strategy (based on the homologous disorder in other species), Kawakura et al. (1996) showed that the SRY gene was absent in three XY female Japanese cattle. The authors concluded that these cases of sex reversal were due to a deletion of the SRY gene.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SRY||sex determining region Y||Bos taurus||-||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|
|920||Japanese Black, Japan (Cattle)||Ovotesticular DSD (Disorder of Sexual Development)||SRY||deletion, gross (>20)||Naturally occurring variant||Y||A deletion of the SRY gene||1996||8978769|
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.
|2023||Berry, D.P., Herman, E.K., Carthy, T.R., Jennings, R., Bandi-Kenari, N., O'Connor, R.E., Mee, J.F., O'Donovan, J., Mathews, D., Stothard, P. :|
|Characterisation of eight cattle with Swyer syndrome by whole-genome sequencing. Anim Genet 54:93-103, 2023. Pubmed reference: 36504456 . DOI: 10.1111/age.13280.|
|2004||Clawson, ML., Heaton, MP., Fox, JM., Chitko-McKown, CG., Smith, TP., Laegreid, WW. :|
|Male-specific SRY and ZFY haplotypes in US beef cattle. Anim Genet 35:246-9, 2004. Pubmed reference: 15147402 . DOI: 10.1111/j.1365-2052.2004.01122.x.|
|Liu, WS., de Leon FA. :|
|Assignment of SRY, ANT3, and CSF2RA to the bovine Y chromosome by FISH and RH mapping. Anim Biotechnol 15:103-9, 2004. Pubmed reference: 15595696 . DOI: 10.1081/LABT-200032337.|
|2001||Cheng, H., Shi, H., Zhou, R., Guo, Y., Liu, L., Liu, J., Jiang, Y., Kudo, T., Sutou, S. :|
|Characterization of Bovidae sex-determining gene SRY. Genet Sel Evol 33:687-94, 2001. Pubmed reference: 11742636 . DOI: 10.1051/gse:2001104.|
|1997||Kawakura, K., Miyake, Y., Murakami, R.K., Kondoh, S., Hirata, T.I., Kaneda, Y. :|
|Abnormal structure of the Y chromosome detected in bovine gonadal hypoplasia (XY female) by FISH. Cytogenet Cell Genet 76:36-8, 1997. Pubmed reference: 9154121 .|
|1996||Kawakura, K., Miyake, Y.I., Murakami, R.K., Kondoh, S., Hirata, T.I., Kaneda, Y. :|
|Deletion of the SRY region on the Y chromosome detected in bovine gonadal hypoplasia (XY female) by PCR. Cytogenet Cell Genet 72:183-4, 1996. Pubmed reference: 8978769 .|
|1995||Daneau, I., Houde, A., Ethier, JF., Lussier, JG., Silversides, DW. :|
|Bovine SRY gene locus: cloning and testicular expression. Biol Reprod 52:591-9, 1995. Pubmed reference: 7538798 .|
|1994||Payen, EJ., Cotinot, CY. :|
|Sequence evolution of SRY gene within Bovidae family. Mamm Genome 5:723-5, 1994. Pubmed reference: 7873883 .|
|1992||Kondoh, S., Miyake, Y., Nakahori, Y., Nakagome, Y., Kaneda, Y. :|
|Cytogenetical and Molecularbiological Studies on a Bovine XY Female Journal of Veterinary Medical Science 54:1077-1080, 1992. Pubmed reference: 1477156 .|
|1989||Matejka, M., Berland, H.M., Darre, R., Delverdier, M., Valognes, J. :|
|1 Case of XY Gonadic Dysgenesia in a Heifer Revue de Medecine Veterinaire 140:1011-1014, 1989.|
|Murakami, R.K., Miyake, Y.I., Kaneda, Y. :|
|Cases of XY Female, Single-Birth Freemartin and Trisomy (61, XX, +20) Observed in Cytogenetical Studies on 18 Sterile Heifers Japanese Journal of Veterinary Science 51:941-945, 1989. Pubmed reference: 2607745 .|
- Created by Frank Nicholas on 26 Nov 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Sep 2012
- Changed by Frank Nicholas on 20 Feb 2013