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<p>Selection for performance in horse breeding benefits from precise genetic insights at a molecular level, but knowledge remains limited. This study used whole-genome sequences of 39 elite and non-elite Icelandic horses to identify candidate causal variants linked to previously identified haplotypes in the <i>STAU2</i> and <i>RELN</i> genes affecting pace and other gaits. A frameshift variant in linkage disequilibrium with the previously identified haplotypes in the <i>STAU2</i> gene (r<sup>2</sup> = 0.85) was identified within a predicted <i>STAU2</i> transcript. This variant alters the amino acid sequence and introduces a premature stop codon but does not appear harmful or disease-causing and is potentially unique to equine biology. A large portion of the <i>RELN</i> haplotype overlapped with an H3K27me3 modification mark, suggesting a regulatory role of this region. Despite the small sample size, the <i>RELN</i> haplotype’s effects were validated for tölt, trot, and canter/gallop. Additionally, the <i>RELN</i> haplotype significantly influenced the age at which horses were presented for breeding field tests, indicating a potential role of the region in precocity and trainability. Functional experiments are needed to further investigate the regions’ influences on biological processes and their potential impact on horse performance.</p>

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Genetic influence of a STAU2 frameshift mutation and RELN regulatory elements on performance in Icelandic horses

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月4日

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  • Heiðrún Sigurðardóttir,
  • Susanne Eriksson,
  • Adnan Niazi,
  • Marie Rhodin,
  • Elsa Albertsdóttir,
  • Thorvaldur Kristjansson,
  • Gabriella Lindgren

摘要

Selection for performance in horse breeding benefits from precise genetic insights at a molecular level, but knowledge remains limited. This study used whole-genome sequences of 39 elite and non-elite Icelandic horses to identify candidate causal variants linked to previously identified haplotypes in the STAU2 and RELN genes affecting pace and other gaits. A frameshift variant in linkage disequilibrium with the previously identified haplotypes in the STAU2 gene (r2 = 0.85) was identified within a predicted STAU2 transcript. This variant alters the amino acid sequence and introduces a premature stop codon but does not appear harmful or disease-causing and is potentially unique to equine biology. A large portion of the RELN haplotype overlapped with an H3K27me3 modification mark, suggesting a regulatory role of this region. Despite the small sample size, the RELN haplotype’s effects were validated for tölt, trot, and canter/gallop. Additionally, the RELN haplotype significantly influenced the age at which horses were presented for breeding field tests, indicating a potential role of the region in precocity and trainability. Functional experiments are needed to further investigate the regions’ influences on biological processes and their potential impact on horse performance.