OMIA 001762-9796 : Impaired acrosomal reaction in Equus caballus

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific symbol: IAR

Mapping: Using the equine SNP50 bead chip, Raudsepp et al. (2012) conducted a GWAS on 7 affected and 37 non-affected Thoroughbred stallions, identifying a single region of chromosome ECA13 comprising just the FKBP6 gene which encodes FK506 binding protein 6. Two synonymous SNPs in exon 4 of this gene were strongly but not completely associated with the disorder, hinting that a causal mutation could be located in regulatory region of the gene. A causal mutation remains to be discovered.

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., McCue, M.E., Das, P.J., Dobson, L., Vishnoi, M., Fritz, K.L., Schaefer, R., Rendahl, A.K., Derr, J.N., Love, C.C., Varner, D.D., Chowdhary, B.P. :
Genome-wide association study implicates testis-sperm specific FKBP6 as a susceptibility locus for impaired acrosome reaction in stallions. PLoS Genet 8:e1003139, 2012. Pubmed reference: 23284302. DOI: 10.1371/journal.pgen.1003139.
2007 Brinsko, S.P., Love, C.C., Bauer, J.E., Macpherson, M.L., Varner, D.D. :
Cholesterol-to-phospholipid ratio in whole sperm and seminal plasma from fertile stallions and stallions with unexplained subfertility. Anim Reprod Sci 99:65-71, 2007. Pubmed reference: 16713689. DOI: 10.1016/j.anireprosci.2006.03.018.

Edit History


  • Created by Frank Nicholas on 05 Jan 2013
  • Changed by Frank Nicholas on 05 Jan 2013