OMIA:001762-9796 : Impaired acrosomal reaction in Equus caballus (horse) |
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604839 (gene) , 620103 (trait)
Mendelian trait/disorder: unknown
Disease-related: 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.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FKBP6 | FKBP prolyl isomerase family member 6 (inactive) | Equus caballus | 13 | NC_009156.3 (11350273..11378301) | FKBP6 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001762-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Hernández-Avilés, C., Ramírez-Agámez, L., Varner, D.D., Raudsepp, T., Love, C.C. : |
| Spermatozoal acrosome dysfunction and its role in stallion subfertility. J Equine Vet Sci :105213, 2024. Pubmed reference: 39490453. DOI: 10.1016/j.jevs.2024.105213. | |
| Hernández-Avilés, C., Ramírez-Agámez, L., Weintraub, S.T., Scoggin, C.F., Davis, B.W., Raudsepp, T., Varner, D.D., Love, C.C. : | |
| Proteomic analysis of sperm from fertile stallions and subfertile stallions due to impaired acrosomal exocytosis. Sci Rep 14:12446, 2024. Pubmed reference: 38816557. DOI: 10.1038/s41598-024-63410-3. | |
| 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. | |
| 2021 | Castaneda, C., Juras, R., Kjöllerström, J., Hernandez Aviles, C., Teague, S.R., Love, C.C., Cothran, E.G., Varner, D.D., Raudsepp, T. : |
| Thoroughbred stallion fertility is significantly associated with FKBP6 genotype but not with inbreeding or the contribution of a leading sire. Anim Genet 52:813-823, 2021. Pubmed reference: 34610162. DOI: 10.1111/age.13142. | |
| 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
- Changed by Imke Tammen2 on 06 Nov 2024