Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

Human Mutation

Volumn 23, Issue 6, 2004, Pages 552-558

  Shimozawa, Nobuyuki ^a,f   Tsukamoto, Toshiro ^b   Nagase, Tomoko ^a   Takemoto, Yasuhiko ^a   Koyama, Naoki ^b   Suzuki, Yasuyuki ^a   Komori, Masayuki ^c   Osumi, Takashi ^d   Jeannette, Gootjes ^e   Wanders, Ronald J A ^e   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UTSUNOMIYA UNIVERSITY   (Japan)

^c Osaka Prefecture University   (Japan)

^d UNIVERSITY OF HYOGO   (Japan)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f GIFU UNIVERSITY   (Japan)

Author keywords

Complementation group; PBD; Peroxisome biogenesis disorders; PEX14; Protein import, Zellweger syndrome; ZS

Indexed keywords

MEMBRANE PROTEIN; PROTEIN PEX14; PROTEIN PEX5; PROTEIN PEX7; UNCLASSIFIED DRUG;

ARTICLE; BIOGENESIS; CHO CELL; CONTROLLED STUDY; FIBROBLAST; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC TRANSFECTION; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEROXISOME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ZELLWEGER SYNDROME;

ANIMALS; CELLS, CULTURED; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT, NEWBORN; MUTATION; PEROXISOMAL DISORDERS; RATS; RECEPTORS, CYTOPLASMIC AND NUCLEAR; ZELLWEGER SYNDROME;

EID: 2642556492     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20032     Document Type: Article

References (25)

1. Albertini M, Rehling P, Erdmann R, Girzalsky W, Kiel JA, Veenhuis M, Kunau WH. 1997. Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways. Cell 89:83-92.
2. Bellu AR, Komori M, van der Klei IJ, Kiel JAW, Veenhuis M. 2001. Peroxisome biogenesis and selective degradation converge at Pex14p. J Biol Chem 276:44570-44574.
3. Chen C, Okayama H. 1987. High-efficiency transformation of mammalian cells by plasmid DNA. Mol Cell Biol 7:2745-2752.
4. Fransen M, Terlecky SR, Subramani S. 1998. Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import. Proc Natl Acad Sci USA 95:8087-8092.
5. Girzalsky W, Rehling P, Stein K, Kipper J, Blank L, Kunau WH, Erdmann R. 1999. Involvement of Pex13p in Pex14p localization and peroxisomal targeting signal 2-dependent protein import into peroxisomes. J Cell Biol 144:1151-1162.
6. Gould SJ, Raymond GV, Valle D. 2001. The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill. p 3181-3217.
7. Hashiguchi N, Kojidani T, Imanaka T, Haraguchi T, Hiraoka Y, Baumgart E, Yokota S, Tsukamoto T, Osumi T. 2002. Peroxisomes are formed from complex membrane structures in PEX6-deficient CHO cells upon genetic complementation. Mol Biol Cell 13:711-722.
8. Imamura A, Tsukamoto T, Shimozawa N, Suzuki Y, Zhang Z, Imanaka T, Fujiki Y, Orii T, Kondo N, 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.
9. Imanaka T, Shiina Y, Takano T, Hashimoto T, Osumi T 1996. Insertion of the 70-kDa peroxisomal membrane protein into peroxisomal membranes in vivo and in vitro. J Biol Chem 271:3706-3713.
10. Komori M, Rasmussen SW, Kiel JA, Baerends RJ, Cregg JM, van der Klei IJ, Veenhuis M. 1997. The Hansenula polymorpha PEX14 gene encodes a novel peroxisomal membrane protein essential for peroxisome biogenesis. EMBO J 16:44-53.
11. Matsumoto N, Tamura S, Fujiki Y. 2003a. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. Nat Cell Biol 5:454-460.
12. Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y. 2003b. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet 73:233-246.
13. Oliveira ME, Reguenga C, Gouveia AM, Guimaraes CP, Schliebs W, Kunau WH, Silva MT, Sa-Miranda C, Azevedo JE. 2002. Mammalian Pex14p: membrane topology and characterization of the Pex14p-Pex14p interaction. Biochim Biophys Acta 1567:13-22.
14. Otera H, Harano T, Honsho M, Ghaedi K, Mukai S, Tanaka A, Kawai A, Shimizu N, Fujiki Y. 2000. The mammalian peroxin Pex5pL, the longer isoform of the mobile peroxisome targeting signal (PTS) type 1 transporter, translocates the Pex7p. PTS2 protein complex into peroxisomes via its initial docking site, Pex14p. J Biol Chem 275:21703-21714.
15. Pires JR, Hong X, Brockmann C, Volkmer-Engert R, Schneider-Mergener J, Oschkinat H, Erdmann R. 2003. The ScPex13p SH3 domain exposes two distinct binding sites for Pex5p and Pex14p. J Mol Biol 326:1427-1435.
16. Shimizu N, Itoh R, Hirono Y, Otera H, Ghaedi K, Tateishi K, Tamura S, Okumoto K, Harano T Mukai S, Fujiki Y. 1999. The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis. J Biol Chem 274:12593-12604.
17. Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y. 1992. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 255:1132-1134.
18. Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Kondo N, Kinoshita N, Fujiki Y, Tsukamoto T, Osumi T, Imanaka T, Orii T, Beemer F, Mooijer P, Dekker C, Wanders RJ. 1998. Genetic basis of peroxisome assembly mutants of humans, CHO cells and yeast: identification of a new complementation group of peroxisome biogenesis disorders, absent from peroxisomal membrane ghosts. Am J Hum Genet 63:1898-1903.
19. Shimozawa N, Zhang Z, Suzuki Y, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Barth PG, Wanders RJ, Kondo N. 1999. Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. Biochem Biophys Res Commun 262:504-508.
20. Suzuki Y, Shimozawa N, Yajima S, Orii T, Yokota S, Tashiro Y, Osumi T, Hashimoto T. 1992. Different intracellular localization of peroxisomal proteins in fibroblasts from patients with aberrant peroxisome assembly. Cell Struct Funct 17:1-8.
21. Suzuki Y, Jiang LL, Souri M, Miyazawa S, Fukuda S, Zhang Z, Une M, Shimozawa N, Kondo N, Orii T, Hashimoto T 1997. D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. Am J Hum Genet 61:1153-1162.
22. Takemoto Y, Suzuki Y, Horibe R, Shimozawa N, Wanders RJA, Kondo N. 2003. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Brain Dev 25:481-487.
23. Tsukamoto T, Miura S, Nakai T, Yokota S, Shimozawa N, Suzuki Y, Orii T, Fujiki Y, Sakai F, Bogaki A, Yasumo H, Osumi T. 1995. Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant. Nat Genet 11:395-401.
24. Will GK, Soukupova M, Hong X, Erdmann KS, Kiel JA, Dodt G, Kunau WH, Erdmann R. 1999. Identification and characterization of the human orthologue of yeast Pex14p. Mol Cell Biol 19:2265-2277.
25. Yajima S, Suzuki Y, Shimozawa N, Yamaguchi S, Orii T, Fujiki Y, Osumi T, Hashimoto T, Moser HW. 1992. Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells. Hum Genet 88:491-499.