Abstract: In domesticated animals, many important traits are complex and regulated by a large number of genes, genetic interactions, and environmental influences. The ability of Icelandic horses to perform the gait 'pace' is largely influenced by a single mutation in the DMRT3 gene, but genetic modifiers likely exist. The aim of this study was to identify novel genetic factors that influence pacing ability and quality of the gait through a genome-wide association study (GWAS) and correlate new findings to previously identified quantitative trait loci (QTL) and mutations. Results: Three hundred and seventy-two Icelandic horses were genotyped with the 670 K+ Axiom Equine Genotyping Array, of which 362 had gait scores from breeding field tests. A GWAS revealed several SNPs on Equus caballus chromosomes (ECA) 4, 9, and 20 that were associated (p < 1.0 × 10-5) with the breeding field test score for pace. The two novel QTL on ECA4 and 9 were located within the RELN and STAU2 genes, respectively, which have previously been associated with locomotor behavior in mice. Haplotypes were identified and the most frequent one for each of these two QTL had a large favorable effect on pace score. The second most frequent haplotype for the RELN gene was positively correlated with scores for tölt, trot, gallop, and canter. Similarly, the second most frequent haplotype for the STAU2 gene had favorable effects on scores for trot and gallop. Different genotype ratios of the haplotypes in the RELN and STAU2 genes were also observed in groups of horses with different levels of pacing ability. Furthermore, interactions (p < 0.05) were detected for the QTL in the RELN and STAU2 genes with the DMRT3 gene. The novel QTL on ECA4, 9, and 20, along with the effects of the DMRT3 variant, were estimated to account jointly for 27.4% of the phenotypic variance of the gait pace. Conclusions: Our findings provide valuable information about the genetic architecture of pace beyond the contribution of the DMRT3 gene and indicate genetic interactions that contribute to the complexity of this trait. Further investigation is needed to fully understand the underlying genetic factors and interactions.
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The research investigates the genetic factors influencing the gait (way of moving) of Icelandic horses, specifically the gait called ‘pace’. Beyond the well-known DMRT3 gene, the study identifies two new genes, RELN and STAU2, as the possible contributors.
Research Methodology
The researchers studied 372 Icelandic horses, all of which were genotyped using the 670K+ Axiom Equine Genotyping Array. Genotyping is a process of determining the genetic makeup, or genotype, of an individual.
Out of these horses, 362 had gait scores from breeding field tests to help determine the quality of their gait.
They used a genome-wide association study (GWAS), a method that involves rapidly scanning markers across complete genomes of many people to find genetic variations associated with a particular disease or trait.
Findings
The GWAS revealed several Single Nucleotide Polymorphisms (SNPs or variations in a single nucleotide) on Equus caballus chromosomes (ECA) 4, 9, and 20 that were associated with the breeding field test score for pace. These SNPs were located within the RELN and STAU2 genes.
Several haplotypes (a group of genes within an organism that was inherited together from a single parent) were identified for the RELN and STAU2 genes. Different genotype ratios of these haplotypes were observed in groups of horses with different levels of pacing ability. The most frequent haplotype for each of these two QTL had a large favorable effect on pace score. The second most frequent haplotype for the RELN was positively correlated with scores for other gaits like trot, tölt, gallop, and canter.
Different genotype ratios of the haplotypes in the RELN and STAU2 genes were also spotted in groups of horses with different levels of pacing ability. For instance, the second frequent haplotype for both genes had favorable effects on other gait scores as well.
Interactions were detected between the QTL in the RELN and STAU2 genes with the DMRT3 gene.
The newly identified regions on chromosomes 4,9 and 20, along with the effects of the DMRT3 variant, altogether accounted for approximately 27.4% of the phenotypic variance of the gait pace.
Conclusion
The study provides credible information about the genetic architecture of pace in Icelandic horses, thereby enriching the existing knowledge that was only limited to the contribution of the DMRT3 gene.
The findings suggest that there are genetic interactions that add to the complexity of this trait.
However, the researchers recommend further investigation to fully understand the underlying genetic factors and interactions.
Cite This Article
APA
Sigurðardóttir H, Boije H, Albertsdóttir E, Kristjansson T, Rhodin M, Lindgren G, Eriksson S.
(2023).
The genetics of gaits in Icelandic horses goes beyond DMRT3, with RELN and STAU2 identified as two new candidate genes.
Genet Sel Evol, 55(1), 89.
https://doi.org/10.1186/s12711-023-00863-6
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, P.O. Box 7023, 75007, Uppsala, Sweden. heidrun.sigurdardottir@slu.se.
Faculty of Agricultural Sciences, Agricultural University of Iceland, Borgarbyggð, 311, Hvanneyri, Iceland. heidrun.sigurdardottir@slu.se.
Boije, Henrik
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Albertsdóttir, Elsa
The Icelandic Agricultural Advisory Centre, Hagatorgi 1, 107, Reykjavik, Iceland.
Kristjansson, Thorvaldur
Faculty of Agricultural Sciences, Agricultural University of Iceland, Borgarbyggð, 311, Hvanneyri, Iceland.
Rhodin, Marie
Department of Anatomy, Physiology, and Biochemistry, Swedish University of Agricultural Sciences, P.O. Box 7011, 75007, Uppsala, Sweden.
Lindgren, Gabriella
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, P.O. Box 7023, 75007, Uppsala, Sweden.
Department of Biosystems, Center for Animal Breeding and Genetics, KU Leuven, Kasteelpark Arenberg 30, 3001, Leuven, Belgium.
Eriksson, Susanne
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, P.O. Box 7023, 75007, Uppsala, Sweden.
MeSH Terms
Horses / genetics
Animals
Mice
Genome-Wide Association Study
Iceland
Transcription Factors / genetics
Genotype
Gait / genetics
Polymorphism, Single Nucleotide
Grant Funding
Agricultural University of Iceland's Doctoral Fund / Agricultural University of Iceland's Doctoral Fund
The Stock Protection Fund for the Icelandic Horse Breed / The Stock Protection Fund for the Icelandic Horse Breed
The Swedish Icelandic Horse Association (SIF) / The Swedish Icelandic Horse Association (SIF)
Blikastaðir Fund / Blikastaðir Fund
Icelandic Genetic Resource Council in Agriculture (AGROGEN) / Icelandic Genetic Resource Council in Agriculture (AGROGEN)
Vetenskapsrådet / Vetenskapsrådet
Stiftelsen för Strategisk Forskning / Stiftelsen för Strategisk Forskning
Conflict of Interest Statement
The authors declare competing interests concerning the commercial applications of the current study. GL is a co-inventor of a patent application concerning commercial testing of the DMRT3 mutation. The stated patent does not restrict research applications of the method.
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