{"entity": "publication", "iuid": "a624b6ccad7b449fa079200d5b4a545f", "timestamp": "2026-04-14T10:03:32.374Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a624b6ccad7b449fa079200d5b4a545f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a624b6ccad7b449fa079200d5b4a545f"}}, "title": "Genetic influence of a STAU2 frameshift mutation and RELN regulatory elements on performance in Icelandic horses.", "authors": [{"family": "Sigur\u00f0ard\u00f3ttir", "given": "Hei\u00f0r\u00fan", "initials": "H"}, {"family": "Eriksson", "given": "Susanne", "initials": "S"}, {"family": "Niazi", "given": "Adnan", "initials": "A"}, {"family": "Rhodin", "given": "Marie", "initials": "M"}, {"family": "Albertsd\u00f3ttir", "given": "Elsa", "initials": "E"}, {"family": "Kristjansson", "given": "Thorvaldur", "initials": "T"}, {"family": "Lindgren", "given": "Gabriella", "initials": "G"}], "type": "journal article", "published": "2025-04-04", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "15", "issue": "1", "pages": "11641", "issn-l": "2045-2322"}, "abstract": "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\u00f6lt, 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.", "doi": "10.1038/s41598-025-95593-8", "pmid": "40185812", "labels": {"National Genomics Infrastructure": "Service", "NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11971302"}, {"db": "pii", "key": "10.1038/s41598-025-95593-8"}], "notes": [], "created": "2025-11-07T07:27:05.828Z", "modified": "2025-11-14T11:07:06.654Z"}