Temperature Sensitivity in Peroxisome Assembly Processes Characterizes Milder Forms of Peroxisome Biogenesis Disorders

Cell Biochemistry and Biophysics

Volumn 32, Issue , 2000, Pages 165-170

  Osumi, Takashi ^a   Imamura, Atsushi ^a,b   Tsukamoto, Toshiro ^a   Fujiwara, Chiharu ^a   Hashiguchi, Noriyo ^a   Shimozawa, Nobuyuki ^b   Suzuki, Yasuyuki ^b   Kondo, Naomi ^b  

^a UNIVERSITY OF HYOGO   (Japan)

^b GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Infantile Refsum disease (IRD); Neonatal adrenoleukodystrophy (NALD); Organelle biogenesis; Peroxisome biogenesis disorders (PBDs); Peroxisomes; PEX genes; Temperature sensitive mutation; Zellweger syndrome (ZS)

Indexed keywords

DISORDERS OF PEROXISOMAL FUNCTIONS; HUMAN; METABOLISM; PATHOLOGY; PEROXISOME; REVIEW; TEMPERATURE; ULTRASTRUCTURE;

HUMANS; PEROXISOMAL DISORDERS; PEROXISOMES; TEMPERATURE;

EID: 0034573051     PISSN: 10859195     EISSN: None     Source Type: Journal    
DOI: 10.1385/CBB:32:1-3:165     Document Type: Article

References (22)

1. Imamura, A., Tsukamoto, T., Shimozawa, N., Suzuki, Y., Zhang, Z., Imanaka, T., et al. (1998) Temperature-sensitive phenotypes of peroxisome assembly processes represent the milder forms of human peroxisome biogenesis disorders. Am. J. Hum. Genet. 62, 1539-1543.
2. Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., et al. (1995) Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J. Pediatr. 127, 13-22.
3. Lazarow, P. B. and Moser, H. W. (1995) Disorders of peroxisome biogenesis, in The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., eds.), McGraw-Hill, New York, pp. 2287-2324.
4. Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., and Fujiki, Y. (1992) A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 255, 1132-1134.
5. Dodt, G., Braverman, N., Wong, C., Moser, A., Moser, H. W., Watkins, P., Valle, D., and Gould, S. J. (1995) Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat. Genet. 9, 115-125.
6. Wiemer, E., Nuttley, W. M., Bertolaet, B. L., Li, X., Francke, U., Wheelock, M. J., Anné, U. K., et al. (1995) Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. J. Cell Biol. 130, 51-65.
7. Fukuda, S., Shimozawa, N., Suzuki, Y., Zhang, Z., Tomatsu, S., Tsukamoto, T., et al. (1996) Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. Am. J. Hum. Genet. 59, 1210-1220.
8. Yahraus, T., Braverman, N., Dodt, G., Kalish, J. E., Morrell, J. C., Moser, H. W., Valle, D., and Gould, S. J. (1996) The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. EMBO J. 15, 2914-2923.
9. Chang, C. C., Lee, W. H., Moser, H., Valle, D., and Gould, S. J. (1997) Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat. Genet. 15, 385-388.
10. Okumoto, K. and Fujiki, Y. (1997) Pex12 encodes an integral membrane protein of peroxisomes. Nat. Genet. 17, 265-266.
11. Tamura, S., Okumoto, K., Toyama, R., Shimozawa, N., Tsukamoto, T., Suzuki, et al. (1998) Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. Proc. Natl. Acad. Sci. USA 95, 4350-4355.
12. Arias, J. A., Moser, A. B., and Goldfischer, S. L. (1985) Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders. J. Cell Biol. 100, 1789-1792.
13. Wiemer, E. A., Out, M., Schelen, A., Wanders, R. J., Schutgens, R. B., and van den Bosch, H., (1991) Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group. Biochim. Biophys. Acta 1097, 232-237.
14. Slawecki, M. L., Dodt, G., Steinberg, S., Moser, A. B., Moser, H. W., and Gould, S. J. (1995) Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders. J. Cell Sci. 1817-1829.
15. Shimozawa, N., Suzuki, Y., Orii, T., Moser, A., Moser, H. W., and Wanders, R. J. A. (1993) Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. Am. J. Hum. Genet. 52, 843-844.
16. Suzuki, Y., Shimozawa, N., Yajima, S., Yamaguchi, S., Orii, T., and Hashimoto, T. (1991) Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases. Biochem. Pharmacol. 41, 453-456.
17. Suzuki, Y., Shimozawa, N., Orii, T., Igarashi, N., Kono, N., and Hashimoto, T. (1988) Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder. Clin. Chim. Acta 172, 65-76.
18. Tsukamoto, T., Miura, S., and Fujiki, Y. (1991) Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. Nature 350, 77-81.
19. Tsukamoto, T., Shimozawa, N., and Fujiki, Y. (1994) Peroxisome assembly factor 1: nonsense mutation in a peroxisome-deficient Chinese hamster ovary cell mutant and deletion analysis. Mol. Cell. Biol. 14, 5458-5465.
20. Giros, M., Roels, F., Prats, J., Ruiz, M., Ribes, A., Espeel, M., et al. (1996) Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver. Ann. NY Acad. Sci. 804, 747-749.
21. Purdue, P. E. and Lazarow, P. B. (1996) Targeting of human catalase to peroxisornes is dependent upon a novel COOH-terminal peroxisomal targeting sequence. J. Cell Biol. 134, 849-862.
22. Freemont, P. S., Hanson, I. M., and Trowsdale, J. (1991) A novel cysteine-rich sequence motif. Cell 64, 483-484.