Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.2.1.31 (beta-glucuronidase)
 7,680 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Evidence for gene dosage effect for beta-glucuronidase (GUSB) and phosphoserine phosphatase (PSP), whose genes are mapped on chromosome 7, was searched in a group of 13 patients with myeloproliferative disorders and acquired monosomy 7. The monosomy 7 was the sole anomaly in nine patients and was associated with other chromosome changes in four. A group of 19 patients with similar diseases but with normal karyotype or with anomalies not involving chromosome 7 served as control. beta-galactosidase and arylsulphatase A, whose genes are not on chromosome 7, were tested as control enzymes. We obtained evidence for a gene dosage effect for GUSB, but not for PSP. When all cases with monosomy 7 were compared with controls, no dosage effect was observed for PSP, but when this group was split into two, according to the presence of anomalies additional to the monosomy 7, the values of activity in the group with additional anomalies were significantly lower than in the controls. Thus, in the case of PSP, the loss of one allele is not followed immediately by reduction in activity, and this could be due to the specific importance of PSP in nucleic acid metabolism. We postulate that some regulatory mechanisms are able to keep normal levels of PSP even in the presence of only one allele, and that they are overwhelmed only when additional chromosome changes are present. These changes tend to involve chromosomes carrying genes for enzymes involved in a metabolic pathway closely related to PSP functions, and only then is a gene dosage effect for PSP detectable.
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PMID:Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase. 196 82

The demonstration of a gene dosage effect in a neoplastic cell with a specific chromosome abnormality could be helpful in the study of some pathogenetic steps of the malignant growth. We tested the activities of beta-glucuronidase (GUSB), whose gene is mapped on chromosome 7 and of Arylsulphatase A (ARSA) and beta-galactosidase (GLB) as control lysosomal enzymes, whose loci are not assigned to number 7, in a group of 10 patients with myeloproliferative disorders associated with monosomy 7. A significant difference of the levels of activity of GUSB in monosomy 7 cells was found in comparison with two groups of controls, one of healthy subjects, the other of patients with similar disorders without monosomy 7. These results indicate the presence of a gene dosage effect for GUSB.
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PMID:Gene dosage effect for beta-glucuronidase (GUSB) in monosomy 7 cells of patients with myeloproliferative disorders. 614 21

In platelets of subjects affected with myeloproliferative disorders the following lysosomal enzymes were studied: alpha-mannosidase, alpha-fucosidase, beta-galactosidase, beta-glucosidase, beta-glucuronidase, beta-N-acetylglucosaminidase and acid phosphatase. For each enzyme the specific activity, the optimum of pH and buffer, Km and saturating substrate concentrations, as well as thermostability were determined. Control and patient enzymes showed no difference.
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PMID:Platelet lysosomal enzymes are normal in myeloproliferative disorders. 643 83