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

Sammanfattning

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 t & ouml;lt, 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.

Nyckelord

Equine; Gait quality; Trainability; Precocity; Whole-genome sequencing; Candidate causal variant

Publicerad i

Scientific Reports
2025, volym: 15, nummer: 1, artikelnummer: 11641
Utgivare: NATURE PORTFOLIO

SLU författare

• Sigurðardóttir, Heiðrún

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    
  • Landbúnaðarháskóli Íslands (LBHI)

• Eriksson, Susanne

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    

• Niazi, Adnan

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    

• Rhodin, Marie

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    

• Lindgren, Gabriella

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    
  • Katholieke Universiteit Leuven

UKÄ forskningsämne

Medicinsk biovetenskap
Genetik och genomik

Publikationens identifierare

• DOI: https://doi.org/10.1038/s41598-025-95593-8

Permanent länk till denna sida (URI)

https://res.slu.se/id/publ/141576