Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

Human Genetics

Volumn 102, Issue 1, 1998, Pages 69-78

  Vervoort, Raf ^a   Gitzelmann, Richard ^b   Bosshard, Nils ^b   Maire, Irène ^c   Liebaers, Inge ^a   Lissens, Willy ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE; MESSENGER RNA; SULFATE;

ARTICLE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GRANULOCYTE; HETEROZYGOTE; HUMAN; HUMAN CELL; ISOTOPE LABELING; MALE; MONOCYTE; MUCOPOLYSACCHARIDOSIS TYPE 7; PRIORITY JOURNAL; RNA SYNTHESIS; SPINE; SYMPTOM; TACHYCARDIA; UPPER RESPIRATORY TRACT INFECTION;

ADOLESCENT; ADULT; ALLELES; ANIMALS; CHILD; COS CELLS; CYTOSINE; ENZYME ACTIVATION; FEMALE; FIBROBLASTS; GLUCURONIDASE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUCOPOLYSACCHARIDOSIS VII; MUTATION; PEDIGREE; SULFUR RADIOISOTOPES; THYMINE;

EID: 0031899732     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050656     Document Type: Article

References (45)

1. Beaudet A, DiFerrante N, Ferry G, Nichols B Jr, Mullins C (1975) Variation in the phenotypic expression of β-glucuronidase deficiency. J Pediatr 86:388-394
2. Bernsen P, Wevers R, Gabreëls F, Lamers K, Sonnen A, Schuurmans Stekhoven J (1987) Phenotypic expression in mucopolysacchahdosis VII. J Neurol Neurosurg Psychiatry 50:699-703
3. Bradford M (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254
4. Chabas A, Giros M, Guardiola A (1991) Low β-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII. J Inherit Metab Dis 14:908-914
5. Clark J (1988) Novel non-templated nucleotide addition reactions catalyzed by procaryotic and eucaryotic DNA polymerases. Nucleic Acids Res 16:9677-9686
6. Conzelmann E, Sandhoff K (1983/4) Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 6:58-71
7. Fratantoni J, Hall C, Neufeld E (1968) The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci USA 60:699-706
8. Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H (1974) Mucopolysaccharidosis VII: β-glucuronidase deficiency. Humangenetik 23:149-158
9. Gitzelmann R, Steinmann B (1980) Fixed thoracic kyphosis in juveniles and young adults: masked mucopolysaccharidosis (MPS) VII. Pediatr Res 14:1423
10. Gitzelmann R, Wiesmann U, Spycher M, Herschkowitz N, Giedion A (1978) Unusually mild course of β-glucuronidase deficiency in two brothers (Mucopolysaccharidosis VII). Helv Paediatr Acta 33:413-428
11. Gonzalez-Noriega A, Grubb J, Talkad V, Sly W (1980) Chloroquine inhibits lysosomal enzyme pinocytosis and enhances lysosomal enzyme secretion by impairing receptor recycling. J Cell Biol 85:839-852
12. Guibaud P, Maire I, Goddon R, Teyssier G, Zabot M, Mandon G (1979) Mucopolysaccharidose type VII par déficit en β-glucuronidase. J Genet Hum 37:29-43
13. Hall C, Cantz M, Neufeld E (1973) A β-glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts. Arch Biochem Biophys 155:32-38
14. Islam M, Vervoort R, Lissens W, Hoo J, Valentine L, Sly W (1996) β-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients. Hum Genet 89:281-284
15. Jain S, Drendel W, Chen Z, Mathews F, Sly W, Grubb J (1996) Structure of human β-glucuronidase reveals candidate lysosomal targeting and active-site motifs. Nature Struct Biol 3:375-381
16. Klein U, Kresse H, Figura K von (1976) Evidence for degradation of heparan sulfate by endoglycosidases: glucosamine and hexuronic acid are reducing terminals of intracellular heparan sulfate from human skin fibrolasts. Biochem Biophys Res Commun 69:158-166
17. Kopito R (1997) ER quality control: the cytoplasmic connection. Cell 88:427-430
18. Kraemer P (1971) Heparan sulfates of cultured cells. I. Membrane-associated and cell-sap species in Chinese hamster cells. Biochemistry 10:1437-1445
19. Kremer R de, Givogri I, Argaraña C, Hliba E, Conci R, Boldini C, Capra A (1992) Mucopolysaccharidosis type VII (β-glucuronidase deficiency): A chronic variant with an oligosymptomatic severe skeletal dysplasia. Am J Med Genet 44:145-152
20. Libby P, Goldberg A (1978) Leupeptin, a protease inhibitor, decreases protein degradation in normal and diseased muscles. Science 199:534-536
21. Maire I, Mandon G, Zabot M, Mathieu M, Guibaud P (1979) β-Glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis. J Inherit Metab Dis 2:29-34
22. Maquat L (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
23. Marton A, Delbecchi L, Bourgaux P (1991) DNA nicking favors PCR recombination. Nucleic Acids Res 19:2423-2426
24. Meyerhans A, Vartanian J, Wain-Hobson S (1990) DNA recombination during PCR. Nucleic Acids Res 18:1687-1691
25. Miller R, Hoffmann J, Powell P, Kyle J, Shipley J, Bachinsky D, Sly W (1990) Cloning and characterization of the human β-glucuronidase gene. Genomics 7:280-283
26. Neufeld E, Muenzer J (1995) The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2465-2494
27. Oshima A, Kyle J, Miller R, Hoffmann J, Powell P, Grubb J, Sly W, Tropak M, Guise K, Gravel R (1987) Cloning, sequencing, and expression of cDN A for human β-glucuronidase. Proc Natl Acad Sci USA 84:685-689
28. Pääbo S, Irwin D, Wilson A (1990) DNA damage promotes jumping between templates during enzymatic amplification. J Biol Chem 265:4718-4721
29. Pfeiffer R, Kresse H, Bäumer N, Sattinger E (1977) Beta-glucuronidase deficiency in a girl with unusual clinical features. Eur J Pediatr 126:155-161
30. Poole B, Ohkuma S (1981) Effect of weak bases on the intralysosomal pH in mouse peritoneal macrophages. J Cell Biol 90:665-669
31. Saiki R, Gelfand D, Stoffel S, Scharf S, Higushi R, Horn G, Mullis K, Erlich H (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491
32. Schmidtchen A, Fransson L (1994) Analysis of heparan-sulphate chains and oligosaccharides from proliferating and quiescent fibroblasts. Eur J Biochem 223:211-221
33. Shipley J, Klinkenberg M, Wu B, Bachinsky D, Grubb J, Sly W (1993) Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Am J Hum Genet 52:517-526
34. Sly W, Quinton B, McAlister W, Rimoin D (1973) Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr 82:249-257
35. Thomas G (1994) "Pseudodeficiencies" of lysosomal hydrolases. Am J Hum Genet 54:934-940
36. 619 in β-glucuronidase with Val. Gene 89:283-287
37. Tomatsu S, Fukuda S, Sukegawa K, Ikedo Y, Yamada S, Yamada Y, Sasaki T, Okamoto H, Kuwahara T, Yamaguchi S, Kiman T, Shintaku H, Isshiki G, Orii T (1991) Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. Am J Hum Genet 48:89-96
38. Vallejo A, Pogulis R, Pease L (1994) In vitro synthesis of novel genes: mutagenesis and recombination by PCR. PCR Methods Appl 4:S123-S130
39. Vervoort R, Lissens W, Liebaers I (1993) Molecular analysis of a patient with hydrops fetalis caused by β-glucuronidase deficiency, and evidence for additional pseudogenes. Hum Mutat 2:443-445
40. Vervoort R, Islam M, Sly W, Chabas A, Wevers R, Jong J de, Liebaers I, Lissens W (1995) A pseudodeficiency allele (D152N) of the human β-glucuronidase gene. Am J Hum Genet 57:798-804
41. Vervoort R, Islam M, Sly W, Zabot M, Kleijer W, Chabas A, Fensom A, Young E, Liebaers I, Lissens W (1996) Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. Am J Hum Genet 58:457-471
42. Vervoort R, Buist N, Kleijer W, Wevers R, Fryns J-P, Liebaers I, Lissens W (1997) Molecular analysis of the β-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. Hum Genet 99:462-468
43. Wu B, Sly W (1993) Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. Hum Mutat 2:446-457
44. Wu M, Tomatsu S, Fukuda S, Sukegawa K, Orii T, Sly W (1994) Overexpression rescues the mutant phenotype of L176F mutation causing β-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. J Biol Chem 269:23681-23688
45. Yamada S, Tomatsu S, Sly W, Islam R, Wenger D, Fukuda S, Sukegawa K, Orii T (1995) Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5′-splice site. Hum Mol Genet 4:651-655