Activities | Families | Sequences | Fold types | References | Help
B6db references: 98198336

type Journal Article
authors Burwinkel, B.; Bakker, H. D.; Herschkovitz, E.; Moses, S. W.; Shin, Y. S.; Kilimann, M. W.
title Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI
journal Am J Hum Genet
ui 98198336
year (1998)
volume 62
number 4
pages 785-91.
keywords Amino Acid Sequence
abstract Deficiency of glycogen phosphorylase in the liver gives rise to glycogen-storage disease type VI (Hers disease; MIM 232700). We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease. These are two splice-site mutations and two missense mutations. A mutation of the 5' splice-site consensus of intron 14 causes the retention of intron 14 and the utilization of two illegitimate 5' splice sites, whereas a mutation of the 3' splice-site consensus of intron 4 causes the skipping of exon 5. Two missense mutations, N338S and N376K, both cause nonconservative replacements of amino acids that are absolutely conserved even in yeast and bacterial phosphorylases. We also report corrections of the PYGL coding sequence, sequence polymorphisms, and a partial PYGL gene structure with introns in the same positions as in PYGM, the gene of the muscle isoform of phosphorylase. Our findings demonstrate that PYGL mutations cause Hers disease, and they may improve laboratory diagnosis of deficiencies of the liver phosphorylase system.
last changed 2002/11/12 16:17

B6db references