Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder

Pediatric Research

Volumn 58, Issue 2, 2005, Pages 263-269

  Hashimoto, Kazuyuki ^a   Kato, Zenichiro ^a   Nagase, Tomoko ^a   Shimozawa, Nobuyuki ^a   Kuwata, Kazuo ^a   Omoya, Kentaro ^a   Li, Ailian ^a   Matsukuma, Eiji ^a   Yamamoto, Yutaka ^a   Ohnishi, Hidenori ^a   Tochio, Hidehito ^b   Shirakawa, Masahiro ^b   Suzuki, Yasuyuki ^a   Wanders, Ronald J A ^c   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; MUTANT PROTEIN; PEX13 PROTEIN; PROTEIN; PROTEINASE; RECOMBINANT PROTEIN; THREONINE; TRYPTOPHAN; UNCLASSIFIED DRUG; UREA;

ADRENOLEUKODYSTROPHY; AMINO ACID SUBSTITUTION; ARTICLE; BETA SHEET; CASE REPORT; CHILD; CIRCULAR DICHROISM; DISORDERS OF PEROXISOMAL FUNCTIONS; FEVER; GEL ELECTROPHORESIS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MALE; MELTING POINT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN DENATURATION; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN SECONDARY STRUCTURE; SEQUENCE ALIGNMENT; SH3 DOMAIN; TEMPERATURE SENSITIVITY; ZELLWEGER SYNDROME;

AMINO ACID MOTIFS; AMINO ACID SEQUENCE; CIRCULAR DICHROISM; FIBROBLASTS; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; ISOLEUCINE; MALE; MEMBRANE PROTEINS; MICROSCOPY, FLUORESCENCE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEPTIDES; PEROXISOMAL DISORDERS; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; SRC HOMOLOGY DOMAINS; TEMPERATURE; TRYPTOPHAN;

EID: 23244434795     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000169984.89199.69     Document Type: Article

References (29)

1. Moser HW 1999 Genotype-phenotype correlations in disorders of peroxisome biogenesis. Mol Genet Metab 68:316-327
2. Fujiki Y 2000 Peroxisome biogenesis and peroxisome biogenesis disorders. FEBS Lett 476:42-46
3. Shimozawa N, Tsukamoto T, Nagase T, Takemoto Y, Koyama N, Suzuki Y, Komori M, Osumi T, Jeannette G, Wanders RJ, Kondo N 2004 Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as lhe mutated gene. Hum Mutat 23:552-558
4. Suzuki Y, Shimozawa N, Orii T, Tsukamoto T, Osumi T, Fujiki Y, Kondo N 2001 Genetic and molecular bases of peroxisome biogenesis disorders. Genel Med 3:372-376
5. Urquhart AJ, Kennedy D, Gould SJ, Crane DI 2000 Interaction of Pex5p, the type 1 peroxisome targeting signal receptor, with the peroxisomal membrane proteins Pex14p and Pex13p. J Biol Chem 275:4127-4136
6. Douangamath A, Filipp FV, Klein AT, Barnett P, Zou P, Voorn-Brouwer T, Vega MC, Mayans OM, Sattler M, Distel B, Wilmanns M 2002 Topography for independent binding of α-helical ligands to a peroxisomal SH3 domain. Mol Cell 10:1007-1017
7. Kami K, Takeya R, Sumimoto H, Kohda D 2002 Diverse recognition of non-PxxP peptide ligands by the SH3 domains from p67(phox), Grb2 and Pex13p. EMBO J 21:4268-4276
8. Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders RJ, Kondo N 1999 Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Hum Mol Genet 8:1077-1083
9. Zinkham WH, Liljestrand JD, Dixon SM, Hutchison JL 1979 Observations on the rate and mechanism of hemolysis in individuals with Hb Zurich [His E7(63) leads to Arg]: II. Thermal denaturation of hemoglobin as a cause of anemia during fever. Johns Hopkins Med J 144:109-116
10. Bruce D, Perry DJ, Borg JY, Carrell RW, Wardell MR 1994 Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-Asp). J Clin Invest 94:2265-2274
11. Vermeulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH 2001 A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet 27:299-303
12. 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
13. Li A, Kato Z, Ohnishi H, Hashimoto K, Matsukuma E, Omoya K, Yamamoto Y, Kondo N 2003 Optimized gene synthesis and high expression of human interleukin-18. Protein Expr Purif 32110-118
14. Otera H, Setoguchi K, Hamasaki M, Kumashiro T, Shimizu N, Fujiki Y 2002 Peroxisomal targeting signal receptor Pex5p interacts with cargoes and import machinery components in a spatiotemporally differentiated manner: conserved Pex5p WXXXF/Y motifs are critical for matrix protein import. Mol Cell Biol 22:1639-1655
15. Northey JG, Di Nardo AA, Davidson AR 2002 Hydrophobic core packing in the SH3 domain folding transition state. Nat Struct Biol 9:126-130
16. Kuwata K, Matumoto T, Cheng H, Nagayama K, James TL, Roder H 2003 NMR-delected hydrogen exchange and molecular dynamics simulations provide structural insight into fibril formation of prion protein fragment 106-126. Proc Natl Acad Sci U S A 100:14790-14795
17. Mok YK, Elisseeva EL, Davidson AR, Forman-Kay JD 2001 Dramatic stabilization of an SH3 domain by a single substitution: roles of the folded and unfolded states. J Mol Biol 307:913-928
18. Rastogi PA 2000 Mac Vector. Integrated sequence analysis for the Macintosh. Methods Mol Biol 132:47-69
19. Combet C, Jambon M, Deleage G, Geourjon C 2002 Geno3D: automatic comparative molecular modelling of protein. Bioinformatics 18:213-214
20. Laskowski RA, Rullmannn JA, MacArthur MW, Kaptein R, Thornton JM 1996 AQUA and PROCHECK-NMR: programs for checking the quality of protein structures solved by NMR. J Biomol NMR 8:477-486
21. Sayle RA. Milner-White EJ 1995 RASMOL: biomolecular graphics for all. Trends Biochem Sci 20:374
22. Fransen M, Vastiau I, Brees C, Brys V, Mannaerts GP, Van Veldhoven PP 2004 Potential role for Pex19p in assembly of PTS-receptor docking complexes. J Biol Chem 279:12615-12624
23. Martinez JC, Serrano L 1999 The folding transition state between SH3 domains is conformationally restricted and evolutionarily conserved. Nat Struct Biol 6:1010-1016
24. Riddle DS, Grantcharova VP, Santiago JV, Alm E, Ruczinski I, Baker D 1999 Experiment and theory highlight role of native state topology in SH3 folding. Nat Struct Biol 6:1016-1024
25. Di Nardo AA, Larson SM, Davidson AR 2003 The relationship between conservation, thermodynamic stability, and function in the SH3 domain hydrophobic core. J Mol Biol 333:641-655
26. Imamura A, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Fujiki Y, Orii T, Osumi T, Wanders RJ, Kondo N 2000 Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1. Pediatr Res 48:541-545
27. Waller C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G 2001 Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. Am J Hum Genet 69:35-48
28. Wei H, Kemp S, McGuinness MC, Moser AB, Smith KD 2000 Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Ann Neurol 47:286-296
29. Perlmutter DH 2002 Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking. Pediatr Res 52:832-836