OMIA 001230-9913 : Ovotesticular DSD (Disorder of Sexual Development) in Bos taurus

In other species: horse , wood lemming , domestic cat , Japanese medaka , dog , rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 400044 , 300018 , 612965 , 154230 , 613080 , 613762 , 233420 , 614279

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

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Japanese Black Ovotesticular DSD (Disorder of Sexual Development) SRY deletion, gross (>20) Y A deletion of the SRY gene 1996 8978769

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.
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