OMIA 002141-9796 : Myositis, immune-mediated in Equus caballus |
Albuquerque et al. (2021) “report of two related QH foals with the E321G MYH1 mutation that had clinical signs of MYHM, with histological confirmation of IMM in one of the foals. This prompted an investigation the aim of which was to determine the allele frequency of the E321G MYH1 variant across QHs using a DNA archive in Brazil. … Of the 299 genotyped QHs, 44 animals (14.7%) were heterozygous (My/N) for the E321G MYH1 variant, and 255 (85.3%) were homozygous for the wild-type allele (N/N), implying an allele frequency of 0.074.”
Genetic testing: Finno et al. (2018) concluded that their "results suggest that rather than consistently causing a myopathy, homozygosity and, in some cases, heterozygosity for the MYH1 variant predisposed horses to a myopathy under certain environmental triggers." In other words, the jury is still undecided in relation to the utility of genotyping for this variant as a means of selecting against the disorder. Breed: Quarter Horse. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MYH1 | myosin, heavy chain 1, skeletal muscle, adult | Equus caballus | 11 | NC_009154.3 (53350918..53325909) | MYH1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
973 | Quarter Horse | Immune-mediated myositis | MYH1 | missense | Naturally occurring variant | EquCab3.0 | 11 | g.53345548T>C | p.(E321G) | The location of this likely causal variant was given as chr11:52,993,878T>C by Finno et al. (2018) in relation to the EquCab2.0 assembly. Applying NCBI's remap gives the EquCab3.0 coordinate as chr11:53,345,548 | 2018 | 29510741 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2021 | Albuquerque, A.L.H., Delfiol, D.J.Z., Andrade, D.G.A., Albertino, L.G., Sonne, L., Borges, A.S., Valberg, S.J., Finno, C.J., Oliveira-Filho, J.P. : | |
Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses. Equine Vet J :, 2021. Pubmed reference: 34606642. DOI: 10.1111/evj.13521. | ||
Ochala, J., Finno, C.J., Valberg, S.J. : | ||
Myofibre hyper-contractility in horses expressing the myosin heavy chain myopathy mutation, MYH1 E321G. Cells 10:3428, 2021. Pubmed reference: 34943936. DOI: 10.3390/cells10123428. | ||
2019 | Gianino, G.M., Valberg, S.J., Perumbakkam, S., Henry, M.L., Gardner, K., Penedo, C., Finno, C.J., Gianino, G.M., Valberg, S.J., Perumbakkam, S., Henry, M.L., Gardner, K., Penedo, C., Finno, C.J. : | |
Prevalence of the E321G MYH1 variant for immune-mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses. J Vet Intern Med 33:897-901, 2019. Pubmed reference: 30623495. DOI: 10.1111/jvim.15393. | ||
2018 | Durward-Akhurst, S.A., Valberg, S.J. : | |
Immune-Mediated Muscle Diseases of the Horse. Vet Pathol 55:68-75, 2018. Pubmed reference: 28129093. DOI: 10.1177/0300985816688755. | ||
Finno, C.J., Gianino, G., Perumbakkam, S., Williams, Z.J., Bordbari, M.H., Gardner, K.L., Burns, E., Peng, S., Durward-Akhurst, S.A., Valberg, S.J. : | ||
A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses. Skelet Muscle 8:7, 2018. Pubmed reference: 29510741. DOI: 10.1186/s13395-018-0155-0. | ||
2007 | Lewis, S.S., Valberg, S.J., Nielsen, I.L. : | |
Suspected immune-mediated myositis in horses. J Vet Intern Med 21:495-503, 2007. Pubmed reference: 17552457. |
Edit History
- Created by Frank Nicholas on 09 Mar 2018
- Changed by Frank Nicholas on 09 Mar 2018
- Changed by Frank Nicholas on 05 Feb 2019
- Changed by Frank Nicholas on 15 May 2020
- Changed by Imke Tammen2 on 08 Oct 2021