OMIA:001601-9796 : XY difference of sexual development, generic in Equus caballus (horse)

In other species: dog , domestic cat , taurine cattle

Categories: Reproductive system phene

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: This phene includes information about XY differences of sexual development (XY DSD) in animals with a normal XY karyotype for which so far no causal variants have been identified. Renamed from 'XY DSD (Disorder of Sexual Development), SRY-positive' [28/09/2023] Renamed from 'Sex reversal: XY female, SRY-positive' [22/10/2021]

History: Raudsepp et al. (2010) reported five cases of this disorder.

Molecular basis: Raudsepp et al. (2012) reported a "~300 kb deletion in two [affected] Standardbreds on ECA29 involving aldo-keto reductase gene cluster known to catalyze the conversion of sex hormones".

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:001601-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 Demyda-Peyrás, S., Laseca, N., Anaya, G., Kij-Mitka, B., Molina, A., Karlau, A., Valera, M. :
Prevalence of sex-related chromosomal abnormalities in a large cohort of Spanish purebred horses. Animals (Basel) 13:539, 2023. Pubmed reference: 36766428. DOI: 10.3390/ani13030539.
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.
2012 Raudsepp, T., Fang, E., Qu, Z., Gosch, S., Das, P.J., Arnold, C., McDonnell, S., Adelson, D.L., Chowdhary, B.P. :
Genomic copy number variation in horses with disorders of sexual development. Plant & Animal Genome (PAG) XX :Abstract W257, 2012.
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.
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.
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., Elliston, K.O., Shroeder, 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. Cytogenet Cell Genet 48:99-102, 1988. Pubmed reference: 3197456. DOI: 10.1159/000132599.
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. Hum Genet 79:321-8, 1988. Pubmed reference: 3410457. DOI: 10.1007/BF00282169.
1986 Kent, M.G., Shoffner, R.N., Bouen, L., Weber, A.F. :
XY sex-reversal syndrome in the domestic horse Cytogenet Cell Genet 42:8-18, 1986. Pubmed reference: 3720361. DOI: 10.1159/000132243.
Power, M.M. :
XY sex reversal in a mare. Equine Vet J 18:233-6, 1986. Pubmed reference: 3732247. DOI: 10.1111/j.2042-3306.1986.tb03609.x.

Edit History

  • Created by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 19 Jan 2012
  • Changed by Frank Nicholas on 02 Jul 2012
  • Changed by Frank Nicholas on 04 Jul 2012