Expression of mutated glucocerebrosidase alleles in human cells

Human Molecular Genetics

Volumn 6, Issue 6, 1997, Pages 887-895

  Pasmanik Chor, Metsada ^a   Madar Shapiro, Liora ^a   Stein, Orna Elroy ^a   Aerts, Hans ^b   Gatt, Shimon ^c   Horowitz, Mia ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c HEBREW UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ENZYME ANTIBODY; FLUORESCENT DYE; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; LYSOSOME ENZYME; MESSENGER RNA; MONOCLONAL ANTIBODY; MUTANT PROTEIN; RECOMBINANT PROTEIN; RNA POLYMERASE;

AMINO ACID SEQUENCE; ANTIGEN RECOGNITION; ARTICLE; BACTERIOPHAGE T7; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME STABILITY; ENZYME STRUCTURE; EXPRESSION VECTOR; GAUCHER DISEASE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; RECOMBINANT GENE; RNA DEGRADATION; VACCINIA VIRUS; VIRUS RECOMBINANT;

ALLELES; ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; GENE EXPRESSION; GENETIC VECTORS; GLUCOSYLCERAMIDASE; HUMANS; MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECOMBINATION, GENETIC; RNA; VACCINIA VIRUS;

VACCINIA; VACCINIA VIRUS;

EID: 0030978719     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.6.887     Document Type: Article

References (36)

1. Brady, R.O., Kafner, J.N. and Shapiro, D. (1965) Metabolism of glucocerebrosidase II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem. Biophys. Res. Commun., 18, 221-225.
2. Beutler,E. and Grabowski, G.A. (1995) Gaucher disease. In Scriver,C.R., Beaudet, A.L., Sly, W.S.and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Diseases. McGrew-Hill Press, New York, vol. II, pp. 2641-2663.
3. Beutler, E. (1995) Gaucher disease. Adv. Genet., 32, 17-49.
4. Beutler, E. and Gelbart, T. (1996) Glucocerebrosidase (Gaucher disease). 8, 207-213.
5. Theophilus, B., Latham, T., Grabowski, G.A. and Smith, F.I. (1989) Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am. J. Hum. Genet., 45, 212-225.
6. Beutler, E., Gelbart, T., Kuhl, W., Zimran, A. and West, C. (1992) Mutations in Jewish patients with Gaucher disease. Blood, 79, 1662-1666.
7. Horowitz, M. and Zimran, A. (1994) Mutations causing Gaucher disease. Hum. Mutat., 3, 1-11.
8. Tsuji, S., Martin, B.M., Barranger, J.A., Stubblefleld, B.K., LaMarca, M.E. and Ginns, E.I. (1988) Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc. Natl Acad. Sci. USA, 85, 2349-2352.
9. Beutler, E., Gelbart, T., Kuhl, W., Sorge, J. and West, C. (1991) Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc. Natl Acad. Sci. USA, 88, 10544-10547.
10. Tsuji, S., Choudary, P.V., Martin, B.M., Stubblefleld, B.K., Mayor, J.A., Barranger, J.A. and Ginns, E.I. (1987) A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N. Engl. J. Med., 316, 570-575.
11. Eyal, N., Wilder, S. and Horowitz, M. (1990) Prevalent and rare mutations among Gaucher patients. Gene, 96, 277-283.
12. Latham, T., Grabowski, G.A., Theophilus, B.D.M. and Smith, F.I. (1990) Complex alleles of the acid β-glucosidase gene in Gaucher disease. Am. J. Hum. Genet., 47, 79-86.
13. Firon, N., Eyal, N., Kolodny, E.H. and Horowitz, M. (1990) Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene. Am. J. Hum. Genet., 46, 527-532.
14. Abrahamov, A., Elstein, D., Gross, T.V., Farber, B., Glaser, Y., Hadas, H.I., Ronen, S., Tafakjdi, M., Horowitz, M. and Zimran, A. (1995) Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet, 346, 1000-1003.
15. Wigderson, M., Firon, N., Horowitz, Z., Wilder, S., Frishberg, Y., Reiner, O. and Horowitz, M. (1989) Characterization of mutations in Gaucher patients by cDNA cloning. Am. J. Hum. Genet., 44, 365-377.
16. Beutler, E., Nguyen, N.J., Henneberger, M.W., Smolec, J.M., McPherson, R.A., West, C. and Gelbart, T. (1993) Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am. J. Hum. Genet., 52, 85-88.
17. Dahl, N., Lagerstrom, M., Erikson, A. and Pettersson, U. (1990) Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am. J. Hum. Genet., 47, 275-278.
18. Grabowski, G.A. (1993) Gaucher disease - enzymology, genetics, and treatment. In Harris, H. and Hirschhorn, K. (eds), Advances in Human Genetics. Plenum Press, New York, vol. 21, pp. 377-441.
19. Pasmanik-Chor, M., Elroy-Stein, O., Aerts, H., Agmon, V., Gatt, S. and Horowitz, M. (1996) Overexpression of human glucocerebrosidase containing different-sized leaders. Biochem. J., 317, 81-88.
20. Fuerst, T.R., Niles, E.G., Studier, F.W. and Moss, B. (1986) Eukaryotic transient-expression system based on recombinant vaccinia virus that synthesizes bacteriophage T7 RNA polymerase. Proc. Natl Acad. Sci. USA, 83, 8122-8126.
21. Elroy-Stein, O., Fuerst, T.R. and Moss, B. (1989) Cap-independent translation of mRNA conferred by encephalomyocarditis virus 5′ sequence improves the performance of the vaccinia virus/bacteriophage T7 hybrid expression system. Proc. Natl Acad. Sci. USA, 86, 6126-6130.
22. Moss, B., Elroy-Stein, O., Mizukami, T., Alexander, W.A. and Fuerst, T.R. (1990) Product review. New mammalian expression vectors. Nature, 348, 91-92.
23. Sorge, J.A., West, C., Kuhl, W., Treger, L. and Beutler, E. (1987) The human glucocerebrosidase gene has two functional ATG initiator codons. Am. J. Hum. Genet., 41, 1016-1024.
24. Agmon, V., Monti, E., Dagan, A., Augusto, P., Marchesini, S. and Gatt, S. (1993) Fluorescent-based diagnosis of lipid storage disease by analysis of the culture medium of skin fibroblasts. Clin. Chim. Acta, 218, 139-147.
25. Erickson, A.M., Ginns, E.I. and Barranger, J.A. (1985) Biosynthesis of the lysosomal enzyme glucocerebrosidase. J. Biol. Chem., 260, 14319-14324.
26. Bergmann, J.E. and Grabowski, G.A. (1989) Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. Am. J Hum. Genet., 44, 741-750.
27. Ohashi, T., Hong, C.M., Weiler, S., Tomich, J.M., Aerts, J.M., Tager, J.M. and Barranger, J.A. (1991) Characterization of human glucocerebrosidase from different mutant alleles. J. Biol. Chem., 266, 3661-3667.
28. Horowitz, M., Tzuri, G., Eyal, N., Berebi, A., Kolodny, E.H., Brady, R.O., Barton, N.W., Abrahamov, A. and Zimran, A. (1993) Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am. J. Hum. Genet., 53, 921-930.
29. Zimran, A. and Horowitz, M. (1994) RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. Am. J. Med. Genet., 50, 74-78.
30. Kunkel, T.A. (1991) Mutagenesis of cloned DNA: oligonucleotide-directed mutagenesis without phenotypic selection. In Auserbel, P.M., Brent, K., Kingston, RE., Moore, D.D., Seidman, J.G., Smith, J.A. and Struhl, E. (eds), Current Protocols in Molecular Biology, pp 8.01-8.16.
31. Mackett, M., Smith, G.L. and Moss, B. The construction of vaccinia virus recombinants expressing foreign genes. In Glover, D.M. (ed.), DNA Cloning: A Practical Approach. IRL Press, Oxford, pp. 191-211.
32. Thomas, P.S. (1980) Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose. Proc. Natl Acatl Sci. USA, 77, 5201-5205.
33. Reiner, O., Wilder, S., Givol, D. and Horowitz, M. (1987) Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA. DNA, 6, 101-108.
34. Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
35. Pinhasi, O. and Oren, M. (1984) Expression of the mouse p53 cellular tumor antigen in monkey cells. Mol. Cell. Biol., 4, 2180-2186.
36. Bradford, M.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.