Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders

Human Molecular Genetics

Volumn 7, Issue 13, 1998, Pages 2089-2094

  Imamura, Atsushi ^a,b   Tamura, Shigehiko ^c   Shimozawa, Nobuyuki ^a   Suzuki, Yasuyuki ^a   Zhang, Zhongyi ^a   Tsukamoto, Toshiro ^b   Orii, Tadao ^d   Kondo, Naomi ^a   Osumi, Takashi ^f   Fujiki, Yukio ^c,e  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF HYOGO   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

^d CHUBU GAKUIN UNIVERSITY   (Japan)

^e JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE;

ADRENOLEUKODYSTROPHY; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; FIBROBLAST; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; INFANT; MISSENSE MUTATION; PEROXISOME; POINT MUTATION; PRIORITY JOURNAL; REFSUM DISEASE; TEMPERATURE DEPENDENCE; ZELLWEGER SYNDROME;

EID: 7844239443     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.13.2089     Document Type: Article

References (41)

1. van den Bosch, H., Schutgens, R.B.H., Wanders, R.J.A and Tager, J.M. (1992) Biochemistry of peroxisomes. Annu. Rev. Biochem., 61, 157-197.
2. Lazarow, P.B. and Moser, H.W. (1995) Disorders of peroxisome biogenesis. In Scriver, C.R., Beaudet, A.I., Sly, W.S. and Valle, D. (eds), The Metabolic Basis of Inherited Disease, 7th edn. McGraw-Hill, New York, pp. 2287-2324.
3. Fujiki, Y. (1997) Molecular defects in genetic diseases of peroxisomes. Biochim. Biophys. Acta, 1361, 235-250.
4. Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T. and Fujiki, Y. (1992) Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome. J. Clin. Invest., 90, 1864-1870.
5. Poulos, A., Christodoulou, J., Chow, C.W., Goldblatt, J., Paton, B.C., Orii, T., Suzuki, Y. and Shimozawa, N. (1995) Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group. J. Pediatr., 127, 596-599.
6. Moser, A.B., Rasmussen, M., Naidu, S., Watkins, P.A., McGuiness, M., Hajra, A.K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Wallon, D.S., Skjeldal, O.H., Guggenheim, M.A., Jackson, L.G., Elias, E.R. and Moser, H.W. (1995) Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J. Pediatr., 127, 13-22.
7. Shimozawa, N., Suzuki, Y. Zhang, Z., Imamura, A., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y. Orii, T., Barth, P.G., Wanders, R.J.A. and Kondo, N. (1998) Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13. Biochem. Biophys. Res. Commun., 243, 368-371.
8. Zoeller, R.A., Allen, L.-A.H., Santos, M.J., Lazarow, P.B., Hashimoto, T., Tartakoff, A.M. and Raetz, C.R.H. (1989) Chinese hamster ovary cell mutants defective in peroxisome biogenesis. Comparison to Zellweger syndrome. J. Biol. Chem., 264, 21872-21878.
9. Tsukamoto, T., Yokota, S. and Fujiki, Y. (1990) Isolation and characterization of Chinese hamster ovary cell mutants defective in assembly of peroxisomes. J. Cell Biol., 110, 651-660.
10. Tsukamoto, T., Bogaki, A.,Okumoto, K., Tateishi, K., Fujiki, Y., Shimozawa, N., Suzuki, Y., Kondo, N. and Osumi, T. (1997) Isolation of a new peroxisome deficient CHO cell mutant defective in peroxisome targeting signal-1 receptor. Biochem. Biophys. Res. Commun., 230, 402-406.
11. Okumoto, K., Bogaki, A., Tateishi, K., Tsukamoto, T., Osumi, T., Shimozawa, N., Suzuki, Y., Orii, T. and Fujiki, Y. (1997) Isolation and characterization of peroxisome-deficient Chinese hamster ovary cell mutants representing human complementation group III. Exp. Cell Res., 233, 11-20.
12. Otera, H., Tateishi, K., Okumoto, K., Ikoma, Y., Matsuda, E., Nishimura, M., Tsukamoto, T., Osumi, T., Ohashi, K., Higuchi, O. and Fujiki, Y. (1998) Peroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants. Mol. Cell. Biol., 18, 388-399.
13. Tateishi, K., Okumoto, K., Shimozawa, N., Tsukamoto, T., Osumi, T., Suzuki, Y., Kondo, N., Okano, I. and Fujiki, Y. (1997) Newly identified Chinese hamster ovary cell mutants defective in peroxisome biogenesis represent two novel complementation groups in mammals. Eur. J. Cell Biol., 73, 352-359.
14. 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.
15. Tsukamoto, T. Miura, S., Nakai, T., Yokota, S., Shimozawa, N., Suzuki, Y., Orii, T., Fujiki, Y., Sakai, F., Bogaki, A., Yasumo, H. and Osumi, T. (1995) Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant. Nature Genet., 11, 395-401.
16. Okumoto, K. and Fujiki, Y. (1997) PEX12 encodes an integral membrane protein of peroxisomes. Nature Genet., 17, 265-266.
17. Okumoto, K., Shimozawa, N., Kawai, A., Tamura, S., Tsukamoto, T., Osumi, T., Moser, H., Wanders, R.J.A., Suzuki, Y., Kondo, N. and Fujiki, Y. (1998) PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patients analysis, and characterization of Pex12p. Mol. Cell. Biol., 18, 4324-4336.
18. Tamura, S., Okumoto, K., Toyama, R., Shimozawa, N., Tsukamoto, T., Suzuki, Y., Osumi, T., Kondo, N. and Fujiki, Y. (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.
19. Dodt, G., Braverman, N., Wong, C.S., 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. Nature Genet., 9, 115-125.
20. 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. Nature Genet., 15, 385-388.
21. Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S.J. and Valle, D. (1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genet., 15, 369-376.
22. Motley, A.M., Hettema, E.H., Hogenhout, E.M., Brites, P., ten Asbroek, A.L.M.A., Wijburg, F.A., Baas, F., Heijmans, H.S., Tabak, H.F., Wanders, R.J.A. and Distel, B. (1997) Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor Nature Genet., 15, 377-380.
23. Purdue, P.E., Zhang, J.W., Skoneczny, M. and Lazarow, P.B. (1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7. a homologue of the yeast PTS2 receptor. Nature Genet., 15, 381-384.
24. Okumoto, K., Itoh, R., Shimozawa, N., Suzuki, Y., Tamura, S., Kondo, N. and Fujiki, Y. (1998) Mutation in PEX10 is the cause of Zellweger peroxisome-deficiency syndrome of complementation group B. Hum. Mol. Genet., 7, 1399-1405.
25. Reuber, B.E., Germain-Lee, E., Collins, C.S., Morrell, J.C., Ameritunga, R., Moser, H.W., Valle, D. and Gould, S.J. (1997) Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nature Genet., 17, 445-448.
26. Portsteffen, H., Beyer, A., Becker, E., Epplen, C., Pawlak, A., Kunau, W.-H. and Dodt, G. (1997) Human PEX1 is mutated in complementation group I of the peroxisome biogenesis disorders. Nature Genet., 17, 449-452.
27. 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.
28. Wiemer, E.A., Nuttley, W.M., Bertolaet, B.L., Li, X., Francke, U., Wheelock, M.J., Anne, U.K., Johnson, K.R. and Subramani, S. (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.
29. Fukuda, S., Shimozawa, N., Suzuki, Y., Tomatsu, S., Tsukamoto, T., Hashiguchi, N., Osumi, T., Masuno, M., Imaizumi, K., Kuroki, Y., Fujiki, Y., Orii, T. and Kondo, N. (1996) Human peroxisome assembly factor-2 (human PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. Am. J. Hum. Genet., 59, 1210-1220.
30. 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.
31. Imamura, A., Tsukamoto, T., Shimozawa, N., Suzuki, Y., Zhang, Z., Imanaka, T., Fujiki, Y., Orii, T., Kondo, N. and Osumi, T. (1998) Temperature-sensitive phenotypes of peroxisome assembly processes represent the milder forms of human peroxisome biogenesis disorders. Am. J. Hum. Genet., 62, 1539-1543.
32. Osumi, T., Tsukamoto, T., Hata, S., Yokota, S., Miura, S., Fujiki, Y., Hijikata, M., Miyazawa, S. and Hashimoto, T. (1991) Amino-terminal presequence of the precursor of peroxisomal 3-ketoacyl-CoA thiolase is a cleavable signal peptide for peroxisomal targeting. Biochem. Biophys. Res. Commun., 181, 947-954.
33. Miyazawa, S., Osumi, T., Hashimoto, T., Ohno, K., Miura, S. and Fujiki, Y. (1989) Peroxisome targeting signal of rat liver acyl-coenzyme A oxidase resides at the carboxy terminus. Mol. Cell. Biol., 9, 83-91.
34. Swinkels, B.W., Gould, S.J., Bodnar, A.G., Rachubinski, R.A. and Subramani, S. (1991) A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase. EMBO J., 10, 3255-3262.
35. Distel, B., Erdmann, R., Gould, S.J., Blobel, G., Crane, D.I., Cregg, J.M., Dodt, G., Fujiki, Y., Goodman, J.M., Just, W.W., Kiel, J.A.K.W., kunau, W.-H., Lazarow, P.B., Mannaerts, G.P., Moser, H., Osumi, T., Rachubinski, R.A., Roscher, A., Subramani, S., Tabak, H.F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P.P. and Veenhuis, M. (1996) A unified nomenclature for peroxisome biogenesis factors. J. Cell Biol., 135, 1-3.
36. Subramani, S. (1997) PEX genes on the rise. Nature Genet., 15, 331-333.
37. Tamura, S., Shimozawa, N., Suzuki, Y., Tsukamoto, T., Osumi, T. and Fujiki, Y. (1998) A cytoplasmic AAA family peroxin. Pex1p, interacts with Pex6p. Biochem. Biophys. Res. Commun., 245, 883-886.
38. Faber, K.N., Heyman, J.H. and Subramani, S. (1998) Two AAA family peroxins, PpPex1p and PpPex6p, interact with each other in an ATP-dependent manner and are associated with different subcellular membranous structures distinct from peroxisomes. Mol. Cell. Biol., 18, 936-943.
39. Morley, S.M., Dundas, S.R., James, J.L., Gupta, T., Brown, R.A., Sexton, C.J., Navsaria, H.A., Leigh, I.M. and Lane, E.B. (1995) Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients. J Cell Sci., 108, 3463-3471.
40. 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.
41. Shimozawa, N., Suzuki, Y., Orii, T., Yokota, S. and Hashimoto, T. (1988) Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biospy. Pediatr. Res., 24, 723-727.