Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV

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dc.contributor.authorWard, T.
dc.contributor.authorValberg, S.
dc.contributor.authorAdelson, D.
dc.contributor.authorAbbey, C.
dc.contributor.authorBinns, M.
dc.contributor.authorMickelson, J.
dc.date.issued2004
dc.descriptionThe original publication can be found at www.springerlink.com
dc.description.abstractComparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by the GBE1 gene, is responsible for a recently identified recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses termed GSD IV. We have now derived the complete GBE1 cDNA sequences for control horses and affected foals, and identified a C to A substitution at base 102 that results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon 1. All 11 affected foals were homozygous for the X34 allele, their 11 available dams and sires were heterozygous, and all 16 control horses were homozygous for the Y34 allele. The previous findings of poorly branched glycogen, abnormal polysaccharide accumulation, lack of measurable GBE1 enzyme activity and immunodetectable GBE1 protein, coupled with the present observation of abundant GBE1 mRNA in affected foals, are all consistent with the nonsense mutation in the 699 amino acid GBE1 protein. The affected foal pedigrees have a common ancestor and contain prolific stallions that are likely carriers of the recessive X34 allele. Defining the molecular basis of equine GSD IV will allow for accurate DNA testing and the ability to prevent occurrence of this devastating disease affecting American Quarter Horses and related breeds.
dc.description.statementofresponsibilityWard, Tara; Valberg, Stephanie; Adelson, David; Abbey, Colette; Binns, Matthew and Mickelson, James
dc.identifier.citationMammalian Genome, 2004; 15(7):570-577
dc.identifier.doi10.1007/s00335-004-2369-1
dc.identifier.issn0938-8990
dc.identifier.issn1432-1777
dc.identifier.orcidAdelson, D. [0000-0003-2404-5636]
dc.identifier.urihttp://hdl.handle.net/2440/46865
dc.language.isoen
dc.publisherSpringer
dc.source.urihttps://doi.org/10.1007/s00335-004-2369-1
dc.subjectAnimals
dc.subjectHorses
dc.subjectHumans
dc.subjectGlycogen Storage Disease Type IV
dc.subject1,4-alpha-Glucan Branching Enzyme
dc.subjectPolysaccharides
dc.subjectTyrosine
dc.subjectDNA
dc.subjectDNA, Complementary
dc.subjectRNA, Messenger
dc.subjectCodon
dc.subjectCodon, Terminator
dc.subjectReverse Transcriptase Polymerase Chain Reaction
dc.subjectDNA Mutational Analysis
dc.subjectBase Sequence
dc.subjectGenotype
dc.subjectHomozygote
dc.subjectGenes, Recessive
dc.subjectMutation
dc.subjectAlleles
dc.subjectExons
dc.subjectMolecular Sequence Data
dc.titleGlycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV
dc.typeJournal article
pubs.publication-statusPublished

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