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A missense mutation (G197→A) in theα-l-fucosidase gene of fucosidosis patients leads to loss ofα-l-fucosidase

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Glycosylation & Disease

Abstract

Fucosidosis is an autosomal recessive lysosomal storage disease resulting from the absence of α-l-fucosidase activity. Two natural missense mutations (G197→A) and (A860→G) within the α-l-fucosidase gene have been reported to be homozygous in four patients with fucosidosis. Expression of wild-type and mutated α-l-fucosidase cDNAs in COS-1 cells revealed complete deficiency of α-l-fucosidase for the G197→A transition and a normal level of enzyme for A860→G. We therefore conclude that the change of G197→A is responsible for fucosidosis in the patients while A860→G is a normal polymorphic variant of α-l-fucosidase.

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References

  1. Durand P, Gatti R, Borrone C. Fucosidosis. In: Durand P and Borrone C, eds.Genetic Errors of Glycoprotein Metabolism. Edi Ermes: Milano, Italy, 1982; 49–81.

    Chapter  Google Scholar 

  2. Willems PJ, Gatti R, Darby J, et al. Fucosidosis revisited: a review of 77 patients.Am J Med Genet 1991:38; 111–31.

    Article  CAS  PubMed  Google Scholar 

  3. DiCioccio RA, Darby JK, Willems PJ. Abnormal expression of α-l-fucosidase in lymphoid cell lines of fucosidosis patients.Biochem Genet 1989:27; 279–90.

    Article  CAS  PubMed  Google Scholar 

  4. Willems PJ, Darby JK, DiCioccio RA, et al. Identification of a mutation in the structural α-l-fucosidase gene in fucosidosis.Am J Hum Genet 1988:43; 756–63.

    CAS  PubMed Central  PubMed  Google Scholar 

  5. Yang M, DiCioccio RA. Mutations in the α-l-fucosidase gene of fucosidosis patients.Glycobiology 1992:2; 488.

    Article  Google Scholar 

  6. Seo HC, Willems PJ, Kretz KA, et al. Fucosidosis: four new mutations and a new polymorphism.Hum Mol Genet 1993:2; 423–9.

    Article  CAS  PubMed  Google Scholar 

  7. Yang M, Allen HJ, DiCioccio RA. Pedigree analysis of α-l-fucosidase gene mutations in a fucosidosis family.Biochim Biophys Acta 1993:1182; 245–9.

    Article  CAS  PubMed  Google Scholar 

  8. DiCioccio RA, Brown KS. Biosynthesis, processing, and extracellular release of α-l-fucosidase in lymphoid cell lines of different genetic origins.Biochem Genet 1988:26; 401–19.

    Article  CAS  PubMed  Google Scholar 

  9. Zielke K, Veath ML, O'Brien JS. Fucosidosis: deficiency of α-l-fucosidase in cultured skin fibroblasts.J Exp Med 1972:136; 197–9.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  10. Zielke K, Okada S, O'Brien JS. Fucosidosis: diagnosis by serum assay of α-l-fucosidase.J Lab Clin Med 1972:79; 164–9.

    CAS  PubMed  Google Scholar 

  11. Landing BH, Donnell GN, Alfi OS. Fucosidosis: clinical, pathologic, and biochemical studies of five patients.Adv Exp Biol Med 1976:68; 147–65.

    Article  CAS  Google Scholar 

  12. Gluzman Y, 1981, SV-40-transformed simian cells support the replication of early SV40 mutants.Cell,23, 175–82.

    Article  CAS  PubMed  Google Scholar 

  13. Fukushima H, Nishimoto J, Okada S. Sequencing and expression of a full length cDNA for human α-l-fucosidase.J Inher Metab Dis 1990:13; 761–5.

    Article  CAS  PubMed  Google Scholar 

  14. Deng WP, Nicholoff JA. Site-directed mutagenesis of virtually any plasmid by eliminating a unique site.Analyt Biochem 1992:200; 81–88.

    Article  CAS  PubMed  Google Scholar 

  15. Occhiodoro T, Beckmann KR, Morris CP, Hopwood JJ. Human α-l-fucosidase: complete coding sequence from cDNA clones.Biochem Biophys Res Commun 1989:164; 439–45.

    Article  CAS  PubMed  Google Scholar 

  16. Yang M, Allen J, DiCioccio RA. A mutation generating a stop codon in the α-l-fucosidase gene of a fucosidosis patient.Biochem Biophys Res Commun 1992:189; 1063–8.

    Article  CAS  PubMed  Google Scholar 

  17. Sambrook J, Fritsch EF, Maniatis T.Molecular Cloning: A Laboratory Manual, 2nd edn, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, 1989.

    Google Scholar 

  18. DiCioccio RA, Barlow JJ, Matta KL. Specific activity of α-l-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum.Biochem Genet 1986:24; 115–30.

    Article  CAS  PubMed  Google Scholar 

  19. Bradford M. A rapid and sensitive method for quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.Analyt Biochem 1976:72; 248–54.

    Article  CAS  PubMed  Google Scholar 

  20. Garnier J, Osguthorpe DJ, Robson B. Analysis of the accuracy and implications of simple methods for predicting secondary structure of globular proteins.J Mol Biol 1978:120; 97–120.

    Article  CAS  PubMed  Google Scholar 

  21. Muller-Taubenberger A, Westphal M, Noegel A, Gerisch G. A developmentally regulated gene product fromDictostelium discideum shows high homology to human α-l-fucosidase.FEBS Lett 1989:246; 185–92.

    Article  CAS  PubMed  Google Scholar 

  22. Fisher KJ, Aronson NN, Jr. Isolation and sequence analysis of a cDNA encoding rat liver α-l-fucosidase.Biochem J 1989:264; 695–701.

    CAS  PubMed Central  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Gynecologic Oncology, Rowell Park Cancer Institute, Elm & Carlton Streets, 14263, Buffalo, NY, USA

    Meiheng Yang, Howard Allen & Richard A. DiCioccio

  2. Program of Biochemistry, Rowell Park Cancer Institute, Elm & Carlton Streets, 14263, Buffalo, NY, USA

    Meiheng Yang, Howard Allen & Richard A. DiCioccio

  3. Department of Pediatrics, Faculty of Medicine, Osaka University, Osaka, Japan

    Hisao Fukushima

Authors
  1. Meiheng Yang
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  2. Howard Allen
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  3. Hisao Fukushima
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  4. Richard A. DiCioccio
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Yang, M., Allen, H., Fukushima, H. et al. A missense mutation (G197→A) in theα-l-fucosidase gene of fucosidosis patients leads to loss ofα-l-fucosidase. Glycosylation & Disease 1, 15–19 (1994). https://doi.org/10.1007/BF00917464

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  • DOI: https://doi.org/10.1007/BF00917464

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