ArticlePloS one2015
A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35 citing papers in PubMed, 73 citations in OpenAlex.
- Article
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- Review: Genomic insights into the adaptive traits and stress resistance in modern horses.Stress biology · 2026Review
- Unraveling the genomic architecture of hock conformation defects in Pura Raza Española horses.Journal of animal science · 2026Article
- Genome-wide association study reveals candidate loci on ECA1 and ECA9 for withers height in Friesian horses.Animal genetics · 2025Article
- Genomic insights into the genetic diversity and genetic basis of body height in endangered Chinese Ningqiang ponies.BMC genomics · 2025Article
- Molecular detection and association of 12.1 kb deletion within the high mobility AT-hook 2 gene in the Netherlands dwarf rabbit (Analytical science advances · 2024Article
- Genomic analyses of withers height and linear conformation traits in German Warmblood horses using imputed sequence-level genotypes.Genetics, selection, evolution : GSE · 2024Article
- Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.JCI insight · 2024Article
- HybridFrontiers in genetics · 2024Article
- Genome-Wide Detection of Copy Number Variations Associated with Miniature Features in Horses.Genes · 2023Article
- Genetic diversity and signatures of selection in four indigenous horse breeds of Iran.Heredity · 2023Article
- Equine Metabolic Syndrome: A Complex Disease Influenced by Multifactorial Genetic Factors.Genes · 2023Review
- Defining Candidate Imprinted loci inGenes · 2023Article
- Selection signatures for local and regional adaptation in Chinese Mongolian horse breeds reveal candidate genes for hoof health.BMC genomics · 2023Article
- Along the Bos taurus genome, uncover candidate imprinting control regions.BMC genomics · 2022Article
- A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses.Current biology : CB · 2022Article
- A QTL for conformation of back and croup influences lateral gait quality in Icelandic horses.BMC genomics · 2021Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The identification of quantitative trait loci (QTL) such as height and their underlying causative variants is still challenging and often requires large sample sizes. In humans hundreds of loci with small effects control the heritable portion of height variability. In domestic animals, typically only a few loci with comparatively large effects explain a major fraction of the heritability. We investigated height at withers in Shetland ponies and mapped a QTL to ECA 6 by genome-wide association (GWAS) using a small cohort of only 48 animals and the Illumina equine SNP70 BeadChip. Fine-mapping revealed a shared haplotype block of 793 kb in small Shetland ponies. The HMGA2 gene, known to be associated with height in horses and many other species, was located in the associated haplotype. After closing a gap in the equine reference genome we identified a non-synonymous variant in the first exon of HMGA2 in small Shetland ponies. The variant was predicted to affect the functionally important first AT-hook DNA binding domain of the HMGA2 protein (c.83G>A; p.G28E). We assessed the functional impact and found impaired DNA binding of a peptide with the mutant sequence in an electrophoretic mobility shift assay. This suggests that the HMGA2 variant also affects DNA binding in vivo and thus leads to reduced growth and a smaller stature in Shetland ponies. The identified HMGA2 variant also segregates in several other pony breeds but was not found in regular-sized horse breeds. We therefore conclude that we identified a quantitative trait nucleotide for height in horses.
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