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Updated: Aug 16, 2026

Spectrophotometric Methods for the Study of Eukaryotic Glycogen Metabolism
Published on: August 19, 2021
The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized
J A Dennis1, C Moran, P J Healy
1Genetics, Elizabeth Macarthur Agricultural Institute, Camden, New South Wales, Australia. julie.dennis@agric.nsw.gov.au
Abstract:
We report here cDNA and genomic sequence of the bovine acidic alpha-glucosidase gene, from the initiation codon to the most 3' polyadenylation signal. The 2814-bp coding sequence predicts a 937-amino acid protein, which is highly conserved compared with the human alpha-glucosidase gene (86% and 83% identity respectively). The intron/exon boundaries are also conserved between the two species. Two mutations have been identified in Brahmans, and one in Shorthorns, that lead to generalized glycogenosis. All three mutations result in premature termination of translation. Evidence is also presented for a missense mutation segregating with the Brahman population, which is responsible for a 70-80% reduction in alpha-glucosidase activity.
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