Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.

摘要: Comparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by GBE1 gene, is responsible for recently identified recessive fatal fetal neonatal storage disease (GSD) American Quarter Horses termed GSD IV. We have now derived complete cDNA sequences control horses affected foals, C to A substitution at base 102 results tyrosine (Y) stop (X) mutation codon 34 of exon 1. All 11 foals were homozygous X34 allele, their available dams sires heterozygous, all 16 Y34 allele. The previous findings poorly branched glycogen, abnormal polysaccharide accumulation, lack measurable enzyme activity immunodetectable protein, coupled with present observation abundant mRNA are consistent nonsense 699 amino acid protein. foal pedigrees common ancestor contain prolific stallions likely carriers Defining molecular basis equine IV will allow accurate DNA testing ability prevent occurrence this devastating affecting related breeds.