Glycogen branching enzyme (<Emphasis Type="Italic">GBE1</Emphasis>) mutation causing equine glycogen storage disease IV |
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Authors: | Tara?L?Ward Stephanie?J?Valberg David?L?Adelson Colette?A?Abbey Matthew?M?Binns Email author" target="_blank">James?R?MickelsonEmail author |
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Institution: | (1) Department of Veterinary PathoBiology, College of Veterinary Medicine, University of Minnesota, 295 AS/VM, 1988 Fitch Ave., St. Paul, Minnesota, 55108-6009, USA;(2) Department of Clinical and Population Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, Minnesota 55108-6009, USA;(3) Department of Animal Science, Texas A & M University, College Station, Texas , 77843-2471, USA;(4) Animal Health Trust, Kentford, Newmarket, Suffolk, CB8 7UU, England |
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Abstract: | Comparative 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.The nucleotide sequence data reported in this article have been submitted to GenBank and have been assigned the accession numbers AY505107–AY505110. |
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