The bovine α-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis

摘要: We report here cDNA and genomic sequence of the bovine acidic α-glucosidase gene, from initiation codon to most 3′ polyadenylation signal. The 2814-bp coding predicts a 937-amino acid protein, which is highly conserved compared with human gene (86% 83% identity respectively). intron/exon boundaries are also between two species. Two mutations have been identified in Brahmans, one Shorthorns, that lead generalized glycogenosis. All three result premature termination translation. Evidence presented for missense mutation segregating Brahman population, responsible 70–80% reduction activity.