OMIA:001139-9913 : Glycogen storage disease V in Bos taurus (taurine cattle)
In other species: sheep
Categories: Homeostasis / metabolism phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1996
Cross-species summary: McArdle disease
Species-specific name: Myophosphorylase deficiency
Species-specific description: The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.
Inheritance: As reported by Angelos et al. (1995), six calves from a single Charolais herd were diagnosed after one of the calves was presented to the Veterinary Medical Teaching Hospital of the School of Veterinary Medicine at the University of California, Davis. The sire and dam of each of the six calves had a common ancestor. The data were consistent with autosomal recessive inheritance.
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Tsujino et al. (1996) showed that the disorder in these Charolais cattle is due to a missense mutation in codon 489 of the gene for myophosphorylase.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: History of recumbency following forced exercise; severe rhabdmyolysis; dehydration; and electrolyte imbalance.
Genetic testing: A PCR test could easily be devised from the information provided by Tsujino et al. (1996)
Charolais (Cattle) (VBO_0000177).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PYGM||phosphorylase, glycogen, muscle||Bos taurus||29||NC_037356.1 (42997404..42985604)||PYGM||Homologene, Ensembl , NCBI gene|
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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|
|193||Charolais (Cattle)||Glycogen storage disease V||PYGM||missense||Naturally occurring variant||ARS-UCD1.2||29||g.42991370G>A||c.1468C>T||p.(R490W)||1996||8845714||Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446|
Cite this entry
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.
|2020||Almodóvar-Payá, A., Villarreal-Salazar, M., de Luna, N., Nogales-Gadea, G., Real-Martínez, A., Andreu, A.L., Martín, M.A., Arenas, J., Lucia, A., Vissing, J., Krag, T., Pinós, T. :|
|Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci 21:9621, 2020. Pubmed reference: 33348688. DOI: 10.3390/ijms21249621.|
|2007||Cítek, J., Rehout, V., Vecerek, L., Hájková, J. :|
|Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. J Vet Med A Physiol Pathol Clin Med 54:257-9, 2007. Pubmed reference: 17523960. DOI: 10.1111/j.1439-0442.2007.00931.x.|
|2004||Johnstone, AC., McSporran, KD., Kenny, JE., Anderson, IL., Macpherson, GR., Jolly, RD. :|
|Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: confirmation by PCR-RFLP testing. N Z Vet J 52:404-8, 2004. Pubmed reference: 15768143. DOI: 10.1080/00480169.2004.36459.|
|2002||Soethout, EC., Verkaar, EL., Jansen, GH., Muller, KE., Lenstra, JA. :|
|A direct StyI polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test for the myophosphorylase mutation in cattle. J Vet Med A Physiol Pathol Clin Med 49:289-90, 2002. Pubmed reference: 12227470.|
|1998||Bilstrom, J.A., Valberg, S.J., Bernoco, D., Mickelson, J.R. :|
|Genetic test for myophosphorylase deficiency in Charolais cattle American Journal of Veterinary Research 59:267-270, 1998. Pubmed reference: 9522942.|
|1996||Tsujino, S., Shanske, S., Valberg, S.J., Cardinet, G.H., Smith, B.P., Dimauro, S. :|
|Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease Neuromuscular Disorders 6:19-26, 1996. Pubmed reference: 8845714.|
|1995||Angelos, S., Valberg, S.J., Smith, B.P., Mcquarrie, P.S., Shanske, S., Tsujino, S., Dimauro, S., Cardinet, G.H. :|
|Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle Muscle & Nerve 18:736-740, 1995. Pubmed reference: 7783763. DOI: 10.1002/mus.880180710.|
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