title: Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents.
abstract: Glycogen storage disease type 1 (GSD-1) is a group of genetic disorders caused by a deficiency in the activity of the enzyme glucose-6-phosphatase. (G6Pase). GSD-1a and GSD-1b, the two major subgroups, have been confirmed at the molecular genetic level. The gene responsible for GSD-1b maps to human chromosome 11q23 and a candidate human GSD-1b cDNA that encodes a microsomal transmembrane protein has been identified. In this study, we show that this cDNA maps to chromosome 11q23; thus it is a strong candidate for GSD-1b. Furthermore, we isolated and characterized candidate murine and rat GSD-1b cDNAs. Both encode transmembrane proteins sharing 93-95% sequence homology to the human GSD-1b protein. The expression profiles of murine GSD-1b and G6Pase differ both in the liver and in the kidney; the GSD-1b transcript appears before the G6Pase mRNA during development. In addition to G6Pase deficiency, GSD-1b patients suffer neutropenia, neutrophil dysfunction, and recurrent bacterial infections. Interestingly, although the G6Pase mRNA is expressed primarily in the liver, kidney, and intestine, the GSD-1b mRNA is expressed in numerous tissues, including human neutrophils/monocytes.
authors.affiliation: Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: B
authors.initials: B
authors.lastname: Lin
authors.forename: B
authors.initials: B
authors.lastname: Annabi
authors.forename: H
authors.initials: H
authors.lastname: Hiraiwa
authors.forename: C J
authors.initials: CJ
authors.lastname: Pan
authors.forename: J Y
authors.initials: JY
authors.lastname: Chou
mesh_terms: D000328:Adult; D000375:Aging / Q000378:metabolism; D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003001:Cloning, Molecular; D018076:DNA, Complementary; D004195:Disease Models, Animal; D018507:Gene Expression Regulation, Developmental; D015971:Gene Expression Regulation, Enzymologic; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000201:enzymology / Q000254:growth & development; D008099:Liver / Q000201:enzymology / Q000254:growth & development; D051379:Mice; D008969:Molecular Sequence Data; D051381:Rats; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; D005952:Glucose-6-Phosphatase