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OMIA 001139-9940 : Glycogen storage disease V in Ovis aries

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 232600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1997

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PYGM phosphorylase, glycogen, muscle Ovis aries 21 NC_040272.1 (44798536..44786670) PYGM 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Glycogen storage disease V PYGM splicing 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.
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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.
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:, 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.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Sep 2012