Heterozygotes for ACAN dwarfism alleles in horses have reduced stature.
- Journal Article
Summary
This research indicates that Miniature horses carrying alleles that cause dwarfism are, on average, shorter than those without the alleles, suggesting that these genetic variants may also influence height in the normal range.
Research Objective
The main aim of this research was to determine if miniature horses carrying alleles (a variant form of a gene) associated with dwarfism have a smaller stature (height) compared to those that do not carry these alleles. The four alleles under investigation are the ACAN D1, D2, D3*, and D4.
Research Methodology
- The study was carried out on a sample population of 245 Miniature horses.
- Each horse was tested for the presence of the four ACAN alleles associated with dwarfism.
- The height of each horse, measured at the withers (the ridge between the shoulder blades), was also recorded.
- Of the 245 horses, 98 were identified as carriers of the dwarfism-causing alleles, and 147 were non-carriers.
Findings
- The study found a statistically significant difference in withers height between the carrier and non-carrier groups.
- On average, horses carrying the dwarfism-causing alleles were 1.43 inches shorter than the non-carriers.
- While a difference was observed, it was noted that the range of heights between the two groups overlapped. This suggests that other factors, including different genes, also play a role in determining the height of the horses.
Conclusion
The researchers concluded that the high carrier rate of these dwarfism-causing variants in the miniature horse population may be related to selective breeding for decreased height. While the ACAN alleles investigated in this study are known to cause dwarfism in their homozygous or compound heterozygous form, their presence in the heterozygous form may also contribute to a shortened stature within the normal height range.
Cite This Article
Publication
Researcher Affiliations
- Department of Veterinary Science, MH Gluck Equine Research Center, University of Kentucky, Lexington, KY, 40546, USA.
- Department of Veterinary Science, MH Gluck Equine Research Center, University of Kentucky, Lexington, KY, 40546, USA.
- Department of Veterinary Science, MH Gluck Equine Research Center, University of Kentucky, Lexington, KY, 40546, USA.
MeSH Terms
- Aggrecans / genetics
- Aggrecans / metabolism
- Alleles
- Animals
- Dwarfism / genetics
- Dwarfism / veterinary
- Heterozygote
- Horse Diseases / genetics
- Horses
References
- Al Abri M.A., Posbergh C., Palermo K., Sutter N.B., Eberth J., Hoffman G.E., Brooks S.A.. Genome-wide scans reveal a quantitative trait locus for withers height in horse near the ANKRD1 gene. Journal of Equine Veterinary Science 60, 67-73.
- Eberth J.E., Graves K.T., MacLeod J.N., Bailey E.. Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses. Animal Genetics 49, 413-20.
- Frischknecht M., Jagannathan V., Plattet P.. A non-synonymous HMGA2 variant decreases height in shetland ponies and other small horses. PLoS ONE 10, e0140749.
- Leegwater P.A., Vos-Loohuis M., Ducro B.J.. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. BMC Genomics 17, 839.
- Makvandi-Nejad S., Hoffman G.E., Allen J.J.. Four loci explain 83% of size variation in the horse. PLoS ONE 7, e39929.
- Metzger J., Schrimpf R., Philipp U., Distl O.. Expression levels of LCORL are associated with body size in horses. PLoS ONE 8, e56497.
- Metzger J., Gast A.C., Schrimpf R., Rau J., Eikelberg D., Beineke A., Hellige M., Distl O.. Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony. Mammalian Genome 8, 143-51.
- Metzger J., Rau J., Naccache F., Bas Conn L., Lindgren G., Distl O.. Genome data uncover four synergistic key regulators for extremely small body size in horses. BMC Genomics 19, 492.
- Rafati N., Andersson L.S., Mikko S.. Large deletions at the SHOX locus in the pseudo-autosomal region are associated with skeletal atavism in Shetland Ponies. G3 (Bethesda) 6, 2213-23.
- Signer-Hasler H., Flury C., Haase B., Burger D., Simianer H., Leeb T., Rieder S.. A genome-wide association study reveals loci influencing height and other conformation traits in horses. PLoS ONE 7, e37282.
- Staiger E.A., Al Abri M.A., Pflug K.M., Kalla S.E., Ainsworth D.M., Miller D., Raudsepp T., Sutter N.B., Brooks S.A.. Skeletal variation in Tennessee Walking Horses maps to the LCORL/NCAPG gene region. Physiological Genomics 48, 325-35.
- Tetens J., Widmann P., Kühn C., Thaller G.. A genome-wide association study indicates LCORL/NCAPG as a candidate locus for withers height in German Warmblood horses. Animal Genetics 44, 467-71.