title: Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells.
abstract: We investigated the quantitative expression of the human glucose-6-phosphate translocase gene (G6PT1) and its splicing variants in human tissues. The G6PT1 gene was strongly expressed in liver, kidney and haematopoietic progenitor cells, which might explain major clinical symptoms such as hepatomegaly, nephromegaly and neutropenia in glycogen storage diseases type Ib. Reverse transcriptase-mediated PCR amplification of G6PT1 cDNA revealed several splicing variants in tissue-specific manners. The brain-specific isoform, which has an additional 22 amino acids between exons 6 and 8, was also identified in heart and skeletal muscle. A new splicing variant, although less prominent in quantity and lacking polypeptide loops corresponding to exons 2 and 3, may have a distinct substrate affinity or specificity in leukocytes and haematopoietic progenitors. In conclusion, the G6PT1 gene was expressed in various tissues, and alternative splicing variants exist in tissue-specific manners.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. k-ihara@mailserver.med.kyushu-u.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Ihara
authors.forename: A
authors.initials: A
authors.lastname: Nomura
authors.forename: S
authors.initials: S
authors.lastname: Hikino
authors.forename: H
authors.initials: H
authors.lastname: Takada
authors.forename: T
authors.initials: T
authors.lastname: Hara
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D017398:Alternative Splicing; D017920:Antiporters; D001921:Brain / Q000201:enzymology; D002648:Child; D005260:Female; D005333:Fetus; D015870:Gene Expression; D006412:Hematopoietic Stem Cells / Q000201:enzymology*; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D007668:Kidney / Q000196:embryology / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000196:embryology / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009004:Monosaccharide Transport Proteins; D018482:Muscle, Skeletal / Q000201:enzymology; D009206:Myocardium / Q000201:enzymology; D009928:Organ Specificity; D010179:Pancreas / Q000201:enzymology; D010770:Phosphotransferases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D017920:Antiporters; D007527:Isoenzymes; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D010770:Phosphotransferases