title: The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis.
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.
authors.affiliation: Genetics, Elizabeth Macarthur Agricultural Institute, Camden, New South Wales, Australia. julie.dennis@agric.nsw.gov.au
authors.forename: J A
authors.initials: JA
authors.lastname: Dennis
authors.forename: C
authors.initials: C
authors.lastname: Moran
authors.forename: P J
authors.initials: PJ
authors.lastname: Healy
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000201:enzymology / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005260:Female; D005796:Genes / Q000235:genetics; D005804:Genes, Lethal / Q000235:genetics; D005838:Genotype; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics / Q000662:veterinary; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D013045:Species Specificity; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D004247:DNA; D000520:alpha-Glucosidases