OMIA 001601-9796 : Sex reversal: XY female, SRY-positive in Equus caballus

In other species: dog

Mendelian trait/disorder: unknown

Considered a defect: yes

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".

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.
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.

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