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Exploring the horse genome to elucidate the genetics of gaits and athletic performance

Jäderkvist Fegraeus, Kim (2017). Exploring the horse genome to elucidate the genetics of gaits and athletic performance. Diss. (sammanfattning/summary) Uppsala, Sweden : Sveriges lantbruksuniv., Acta Universitatis Agriculturae Sueciae, 1652-6880 ; 2017:78
ISBN 978-91-7760-046-6
eISBN 978-91-7760-047-3
[Doctoral thesis]

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The athletic nature of the horse and the large number of diverse horse breeds provides an opportunity to study the genetics of locomotion pattern and performance in mammals. The overall aim of this thesis was to get a better understanding of the genetics behind gaits and performance in the horse. This thesis compiles four papers on four different horse breeds. In studies I and II we describe the effect of a known mutation in the doublesex and mab-3 related transcription factor3 (DMRT3) gene on harness racing performance in Swedish-Norwegian Coldblooded trotters and Finnhorses. Previous studies have demonstrated a major impact of the gene on harness racing performance results in Standardbreds. While the gene clearly is important for harness racing performance in both Coldblooded trotters and Finnhorses, the most successful genotype differed between the two breeds. The homozygous mutant (AA) Finnhorses were most successful on the racetrack but had difficulties in performing a good canter in riding. For Coldblooded trotters the CA horses were the better race horses overall, even though the AA horses performed well at young ages.
While previous studies have reported that homozygozity for the DMRT3 mutation (AA) is required for a horse to be able to pace, not all AA horses can pace. To understand more about the genetic regulation of pace, in study III we compared the genomes of AA Icelandic horses with and without the ability to pace. We performed a genome-wide association study and identified a potential candidate region that contained a gene known to influence memory and learning ability.
In study IV we utilized the close relationship between the Coldblooded trotter and the North-Swedish draught horse to identify novel genes influencing harness racing performance. The two breeds are genetically similar but have been selected for different traits. By comparing the genomes of the two breeds with the genome of Standardbreds, we identified five top regions where the Coldblooded trotters and Standardbreds were similar but together differed from the North-Swedish draught horse. One of the regions identified contained five single nucleotide polymorphisms (SNPs) that were significantly associated with racing performance in Coldblooded trotters.
In conclusion, this research shows that carefully selected horse materials can serve as models to gain deeper knowledge on the genetics of performance and locomotion pattern. It is also vital to contextualize the importance of these genes within each horse breed.

Authors/Creators:Jäderkvist Fegraeus, Kim
Title:Exploring the horse genome to elucidate the genetics of gaits and athletic performance
Series Name/Journal:Acta Universitatis Agriculturae Sueciae
Year of publishing :September 2017
Depositing date:6 October 2017
Number of Pages:74
IJäderkvist Fegraeus, K., Lawrence, C., Petäjistö, K., Johansson, MK., Wiklund, M., Olsson, C., Andersson, L., Andersson LS., Røed, KH., Ihler, C-F., Strand, E., Lindgren, G. & Velie, BD. 2017. Lack of significant associations with early career performance suggest no link between the DMRT3 "Gait Keeper" mutation and precocity in Coldblooded trotters. PloS One 12(5): e0177351. https://doi.org/10.1371/journal.pone.0177351.
IIJäderkvist Fegraeus, K., Johansson, L., Mäenpää, M., Mykkänen, A., Andersson, LS., Velie, BD., Andersson, L., Árnason, T. & Lindgren, G. 2015. Different DMRT3 genotypes are best adapted for harness racing and riding in Finnhorses. Journal of Heredity 106(6), 734-740.
IIIJäderkvist Fagreaus, K., Hirschberg, I., Árnason, T., Andersson, L., Velie, BD., Andersson, LS & Lindgren, G. To pace or not to pace: a pilot study of four- and five-gaited Icelandic horses homozygous for the DMRT3 "Gait Keeper" mutation. In Press in Animal Genetics.
IVJäderkvist Fagreaus, K., Velie, BD., Axelsson, J., Ang, R., Hamilton, NA., Meadows, JRS. & Lindgren, G. Selective sweep mapping using a unique Nordic horse model revealed EDN3 as a candidate gene for harness racing performance. Manuscript.
Place of Publication:Uppsala, Sweden
Publisher:Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences
ISBN for printed version:978-91-7760-046-6
ISBN for electronic version:978-91-7760-047-3
Publication Type:Doctoral thesis
Full Text Status:Public
Agris subject categories.:L Animal production > L10 Animal genetics and breeding
Subjects:(A) Swedish standard research categories 2011 > 1 Natural sciences > 106 Biological Sciences (Medical to be 3 and Agricultural to be 4) > Genetics (medical genetics to be 30107 and agricultural genetics to be 40402)
(A) Swedish standard research categories 2011 > 4 Agricultural Sciences > 402 Animal and Dairy Science > Animal and Dairy Science.
Agrovoc terms:horses, genomes, gait, harness
Keywords:equine, harness racing, locomotion pattern
Permanent URL:
ID Code:14612
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Animal Breeding and Genetics
External funders:FORMAS
Deposited By: Kim Jäderkvist Fegraeus
Deposited On:11 Oct 2017 05:48
Metadata Last Modified:09 Sep 2020 14:17

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