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Horse Height (HMGA2) (H2)

Gene or Region: HMGA2

Reference Variant: G

Mutant Variant: A

Affected Breeds: APHA, AQHA, Appaloosa, Curly, Falabella, Gypsy, Irish Cob, Miniature Horse, Mustangs, Diverse Pony breeds, Shetland, Welsh Cob

Research Confidence: High - Gene variations demonstrated effect in height in diverse horse breeds and other model species.

Explanation of Results: H2/H2 = homozygous for Height/Size, up to 7.48" smaller than like-bred siblings or breeds H2/n = heterozygous for Height/Size, up to 3.74" smaller than like-bred siblings or breeds n/n = no variant detected

General Description of Horse Height (HMGA2)

The domestic horse displays a wide range of size variation, from the tiny Miniature Horses to the towering draft breeds. While height is a complex trait involving a variety of genetic and environmental factors, the breeding systems of domestic animals has led to a small number of genes being responsible for large amounts of variation in several species.

Gene Information

HMGA2 is proposed as a transcription factor associated with body size in a variety of species, including humans, mice, rabbits, cows, chickens and dogs - as well as horses. One study in the Shetland Pony suggested that the A allele affects the first AT-hook DNA binding domain of the HMGA2 protein (c.83G>A; p.G28E), an in vivo DNA binding site, leading to reduced growth and smaller stature. Etalon is currently working on studies regarding the impact of this variant in other horse breeds.

References

Frischknecht M et al. “A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses.” (2015) PLoS ONE 10(10): e0140749. doi:10.1371/journal.pone.0140749

Lee MO et al., “Hmga2 deficiency is associated with allometric growth retardation, infertility, and behavioral abnormalities in mice” (2021) G3 Genes|Genomes|Genetics, 2021;, jkab417, https://doi.org/10.1093/g3journal/jkab417

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