Exclusion of linkage of the RYR1, CACNA1S, and ATP2A1 genes to recurrent exertional rhabdomyolysis in Thoroughbreds.
Abstract: To determine whether there was genetic linkage between the recurrent exertional rhabdomyolysis (RER) trait in Thoroughbred horse pedigrees and DNA markers in genes (the sarcoplasmic reticulum calcium release channel [RYR1] gene, the sarcoplasmic reticulum calcium ATPase [ATP2A1] gene, and the transverse tubule dihydropyridine receptor-voltage sensor [CACNA1S] gene) that are important in myoplasmic calcium regulation. Methods: 34 horses in the University of Minnesota RER resource herd and 62 Thoroughbreds from 3 families of Thoroughbreds outside of the university in which RER-affected status was assigned after 2 or more episodes of ER had been observed. Methods: Microsatellite DNA markers from the RYR1, ATP2A1, and CACNA1S gene loci on equine chromosomes 10, 13, and 30 were identified. Genotypes were obtained for all horses in the 4 families affected by RER, and data were used to test for linkage of these 3 loci to the RER phenotype. Results: Analysis of the RYR1, CACNA1S, and ATP2A1 microsatellites excluded a link between those markers and the RER trait. Conclusions: It is likely that the heritable alterations in muscle contractility that are characteristic of RER are caused by a gene that is not yet known to cause related muscle disease in other species.
Publication Date: 2006-08-03 PubMed ID: 16881852DOI: 10.2460/ajvr.67.8.1395Google Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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The research conducted attempts to find any genetic linkage between recurring exertional rhabdomyolysis (RER) — a muscle condition often spotted in racehorses — and genes known to control muscle contraction in horses. However, based on the analysis of data from certain gene markers, the study found no linkage, suggesting the cause of RER might be a gene not yet associated with such muscle disorders.
Objective of the Research
- The main objective of this research was to identify a possible genetic linkage between recurrent exertional rhabdomyolysis (RER), a muscle disorder in Thoroughbred horses, and genes associated with muscle control—specifically, the RYR1, CACNA1S, and ATP2A1 genes.
Research Methodology
- The study was carried out on a sample of 34 horses from the University of Minnesota RER resource herd and 62 Thoroughbreds from 3 other Thoroughbred families.
- All these horses had experienced two or more occurrences of exertional rhabdomyolysis (ER).
- The research team identified DNA markers from the RYR1, ATP2A1, and CACNA1S gene loci located on equine chromosomes 10, 13, and 30 respectively. They then obtained genotypes for all horses from the four RER-affected families to test these markers for potential linkage to the RER condition.
Research Findings
- The results of the analysis found no direct link between the genetic markers at the RYR1, CACNA1S, and ATP2A1 loci and recurrent exertional rhabdomyolysis.
Conclusions
- The absence of a link suggests that the heritable changes in muscle contractility causing RER could be driven by an unidentified gene.
- This unidentified gene possibly is not known yet to be involved in such muscle disease in other species.
Cite This Article
APA
Dranchak PK, Valberg SJ, Onan GW, Gallant EM, Binns MM, Swinburne JE, Mickelson JR.
(2006).
Exclusion of linkage of the RYR1, CACNA1S, and ATP2A1 genes to recurrent exertional rhabdomyolysis in Thoroughbreds.
Am J Vet Res, 67(8), 1395-1400.
https://doi.org/10.2460/ajvr.67.8.1395 Publication
Researcher Affiliations
- Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, 55108, USA.
MeSH Terms
- Animals
- Calcium Channels / genetics
- Calcium-Transporting ATPases / genetics
- Female
- Genetic Linkage / genetics
- Genetic Markers
- Genetic Predisposition to Disease
- Horse Diseases / genetics
- Horses
- Male
- Microsatellite Repeats / genetics
- Rhabdomyolysis / genetics
- Rhabdomyolysis / veterinary
Citations
This article has been cited 5 times.- Aldrich K, Velez-Irizarry D, Fenger C, Schott M, Valberg SJ. Pathways of calcium regulation, electron transport, and mitochondrial protein translation are molecular signatures of susceptibility to recurrent exertional rhabdomyolysis in Thoroughbred racehorses. PLoS One 2021;16(2):e0244556.
- Valberg SJ, Soave K, Williams ZJ, Perumbakkam S, Schott M, Finno CJ, Petersen JL, Fenger C, Autry JM, Thomas DD. Coding sequences of sarcoplasmic reticulum calcium ATPase regulatory peptides and expression of calcium regulatory genes in recurrent exertional rhabdomyolysis. J Vet Intern Med 2019 Mar;33(2):933-941.
- Fernandez-Fuente M, Terracciano CM, Martin-Duque P, Brown SC, Vassaux G, Piercy RJ. Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubes. PLoS One 2014;9(8):e105971.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer. Equine Vet J 2010 Oct;42(7):658-70.
- Chowdhary BP, Raudsepp T. The horse genome derby: racing from map to whole genome sequence. Chromosome Res 2008;16(1):109-27.
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