OMIA:001139-9940 : Glycogen storage disease V in Ovis aries (sheep)
In other species: taurine cattle
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: 1997
Cross-species summary: McArdle disease
Molecular basis: Tan et al. (1997) documented the first cases of ovine McArdle's disease, and then, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), showed the cause to be a G>A substitution at the 3' splice site of intron 19 of the gene for glycogen myophosphorylase, giving rise to an 8-base deletion at the 5' end of exon 20, creating a frameshift, and resulting in a premature stop codon which removes the last 31 amino-acids from the protein. The mutation is being maintained in a flock of carrier sheep.
Genetic testing: As explained by Tan et al. (1997), the base substitution eliminates an XbaI restriction site, thereby providing a simple PCR RFLP test for carriers.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PYGM||phosphorylase, glycogen, muscle||Ovis aries||21||NC_056074.1 (39448165..39436299)||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|
|388||Glycogen storage disease V||PYGM||splicing||Naturally occurring variant||Oar_rambouillet_v1.0||21||g.44787090C>T||c.2380-1G>A||a G>A substitution at the 3' splice site of intron 19, cDNA position based on NM_001009192.2||rs402505013||1997||9267848||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
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.|
|1999||Pari, G., Crerar, M.M., Nalbantoglu, J., Shoubridge, E., Jani, A., Tsujino, S., Shanske, S., DiMauro, S., Howell, J.M., Karpati, G. :|
|Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro Neurology 53:1352-1354, 1999. Pubmed reference: 10522901 .|
|1997||Tan, P., Allen, J.G., Wilton, S.D., Akkari, P.A., Huxtable, C.R., Laing, N.G. :|
|A splice-site mutation causing ovine McArdle's-disease Neuromuscular Disorders 7:336-342, 1997. Pubmed reference: 9267848 .|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Sep 2012