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Home / Equine Research Bank / Equine Vet J / Candidate gene expression and coding sequence variants in Wa...
Equine veterinary journal2020; 53(2); 306-315; doi: 10.1111/evj.13286

Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.

Abstract: Myofibrillar myopathy (MFM) of unknown aetiology has recently been identified in Warmblood (WB) horses. In humans, 16 genes have been implicated in various MFM-like disorders. Objective: To identify variants in 16 MFM candidate genes and compare allele frequencies of all variants between MFM WB and non-MFM WB and coding variants with moderate or severe predicted effects in MFM WB with publicly available data of other breeds. To compare differential gene expression and muscle fibre contractile force between MFM and non-MFM WB. Methods: Case-control. Methods: 8 MFM WB, 8 non-MFM WB, 33 other WB, 32 Thoroughbreds, 80 Quarter Horses and 77 horses of other breeds in public databases. Methods: Variants were called within transcripts of 16 candidate genes using gluteal muscle mRNA sequences aligned to EquCab3.0 and allele frequencies compared by Fisher's exact test among MFM WB, non-MFM WB and public sequences across breeds. Candidate gene differential expression was determined between MFM and non-MFM WB by fitting a negative binomial generalised log-linear model per gene (false discovery rate <0.05). The maximal isometric force/cross-sectional area generated by isolated membrane-permeabilised muscle fibres was determined. Results: None of the 426 variants identified in 16 candidate genes were associated with MFM including 26 missense variants. Breed-specific differences existed in allele frequencies. Candidate gene differential expression and muscle fibre-specific force did not differ between MFM WB (143.1 ± 34.7 kPa) and non-MFM WB (140.2 ± 43.7 kPa) (P = .8). Conclusions: RNA-seq-only assays transcripts expressed in skeletal muscle. Other possible candidate genes were not evaluated. Conclusions: Evidence for association of variants with a disease is essential because coding sequence variants are common in the equine genome. Variants identified in MFM candidate genes, including two coding variants offered as commercial MFM equine genetic tests, did not associate with the WB MFM phenotype.
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Publication Date: 2020-06-25 PubMed ID: 32453872PubMed Central: PMC7864122DOI: 10.1111/evj.13286Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research article focuses on investigating potential genetic causes of myofibrillar myopathy (MFM), a muscle disorder in Warmblood (WB) horses. Despite identifying several genetic variants and conducting thorough genetic comparisons, the study found no direct association between these variants and MFM in Warmblood horses.

Methodology

  • The study was designed as a case-control type, with cases being Warmblood horses with MFM and controls as those without MFM.
  • Subjects used were 8 WBs with MFM, 8 without MFM, 33 other WBs, 32 thoroughbreds, 80 Quarter Horses, and data of 77 horses of various other breeds from public databases.
  • Gene sequencing was carried out for 16 genes that have been previously associated with MFM-like conditions in humans.
  • The methodology involved using gluteal muscle mRNA sequences that were compared using Fisher’s exact test between WB horses with and without MFM.

Results

  • The results showed that none of the 426 variants identified in the 16 genes studied were associated with MFM in WB horses.
  • Breed-specific differences in genetic variant frequencies were observed in the study.
  • No significant differences were found in gene expression or muscle fibre-specific forces between WB horses with and without MFM.

Conclusions

  • The study concludes that RNA sequencing alone, which only captures gene transcripts expressed in skeletal muscle, is limited in its application.
  • The lack of association between the 16 MFM candidate genes and the disease in WB suggests that other genes outside of these 16 may be implicated.
  • The researchers stress the importance of establishing clear evidence for the association of genetic variants with disease as many variants are common in the equine genome.
  • The study also casts doubt on the efficacy of commercial genetic tests for MFM in horses, as the study could not associate the disease with the two variants these tests commonly identify.

Cite This Article

APA
Williams ZJ, Velez-Irizarry D, Petersen JL, Ochala J, Finno CJ, Valberg SJ. (2020). Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy. Equine Vet J, 53(2), 306-315. https://doi.org/10.1111/evj.13286

Publication

Equine veterinary journal
ISSN: 2042-3306
NlmUniqueID: 0173320
Country: United States
Language: English
Volume: 53
Issue: 2
Pages: 306-315

Researcher Affiliations

Williams, Zoë J
  • Large Animal Clinical Sciences, Michigan State University, College of Veterinary Medicine, East Lansing, MI, USA.
Velez-Irizarry, Deborah
  • Large Animal Clinical Sciences, Michigan State University, College of Veterinary Medicine, East Lansing, MI, USA.
Petersen, Jessica L
  • Department of Animal Science, University of Nebraska Lincoln, Lincoln, NE, USA.
Ochala, Julien
  • Faculty of Life Sciences and Medicine, King's College London, London, UK.
Finno, Carrie J
  • University of California at Davis, School of Veterinary Medicine, Davis, CA, USA.
Valberg, Stephanie J
  • Large Animal Clinical Sciences, Michigan State University, College of Veterinary Medicine, East Lansing, MI, USA.

MeSH Terms

  • Animals
  • Case-Control Studies
  • Female
  • Gene Expression
  • Horse Diseases / genetics
  • Horses / genetics
  • Male
  • Muscle, Skeletal
  • Myopathies, Structural, Congenital / genetics
  • Myopathies, Structural, Congenital / veterinary

Grant Funding

  • L40 TR001136 / NCATS NIH HHS
  • L40TR001136 / NIH HHS
  • T32 OD011167 / NIH HHS
  • 5T32OD011167-14 & / NIH HHS
  • Mary Anne McPhail Endowment
  • Tracy A. Hammer Memorial Fellowship

Conflict of Interest Statement

CONFLICT OF INTEREST. No competing interests have been declared.

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Citations

This article has been cited 6 times.
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