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.

Associated 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


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 .

Edit History

  • 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