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

The bovine α-glucosidase gene: coding region, genomic structure, and mutations that cause bovine... We report here cDNA and genomic sequence of the bovine acidic α-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 α-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 α-glucosidase activity. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Mammalian Genome Springer Journals

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

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Publisher
Springer-Verlag
Copyright
Copyright © 2000 by Springer-Verlag New York Inc.
Subject
Life Sciences; Cell Biology; Anatomy; Zoology
ISSN
0938-8990
eISSN
1432-1777
D.O.I.
10.1007/s003350010038
Publisher site
See Article on Publisher Site

Abstract

We report here cDNA and genomic sequence of the bovine acidic α-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 α-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 α-glucosidase activity.

Journal

Mammalian GenomeSpringer Journals

Published: Feb 26, 2014

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