ANALYSIS OF TEMPERATURE SENSITIVE IN PEROXISOME BIOGENESIS DISORDERS

2004 Fiscal Year Final Research Report Summary

• Project/Area Number: 15591100
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: GIFU UNIVERSITY
• Principal Investigator: SHIMOZAWA Nobuyuki GIFU UNIVERSITY, LIFE SCIENCE RESEARCH CENTER, DIVISION OF GENOMICS RESEARCH, PROFESSOR, 生命科学総合実験センター, 教授 (00240797)
• Co-Investigator(Kenkyū-buntansha): KATO Zenichiro GIFU UNIVERSITY, SCHOOL OF MEDICINE, DEPARTMENT OF PEDIATRICS, ASSISTANT PROFESSOR, 医学部附属病院, 講師 (90303502)
• Project Period (FY): 2003 – 2004
• Keywords: PEROXISOME / TEMPERATURE SENSITIVE / PEROXISOMAL BIOGENESIS DISORDERS / INTRACELLULAR PROTEIN SORTING / THREE-DEMENTIONAL STRUCTURE

Research Abstract

(1)We identified 31 Japanese patients with peroxisome biogenesis disorders (PBDs) and a common mutation arosed once on an ancestral chromosome in the Japanese population.
(2)We identified a new complementation group of PBDs with PEX14 as the defective gene.
(3)To clarify the mechanizm of temperature sensitive phenomenon, we analyze Pex13p-pex14p interaction by three dementional structure and far-UV circular dichroism spectra, using the purified recombinant proteins, and by the immunofluorescent studies, using the fibroblasts from the patients.
(4)We established the screening system of peroxisomal disorders by gas chromatography/mass spectrometry anafysis of very long chain fatty acids, phytanic acid and plasmalogen.
(5)We identified a peroxisome-specific isoform of Lon protease, an ATP-dependent protease with chaperone-like activities.
(6)We demonstrated peroxisomal localization in Purkinje cells and Bergmann glia of the developing mouse cerebellum, using double immunofluorescent staining for peroxisomal proteins.

Research Products

• [Journal Article] Proteomic analysis of rat liver peroxisome : Presence of peroxisome-specific isozyme of Ion protease (2004)
  • Author(s): Kikuchi M, Shimozawa N et al.
  • Journal Title: J Biol Chem 279 Pages: 421-428
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Peroxisomal localization in the developing mouse cerebellum : Implications for neuronal abnormalities related to deficiencies in peroxisomes (2004)
  • Author(s): Nagase T, Shimozawa N et al.
  • Journal Title: Biochim Biophys Acta 1671 Pages: 26-33
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Identification of a new complementation group of the peroxisome biogenesis disorders and PEX 14 as the mutated gene (2004)
  • Author(s): N Shimozawa et al.
  • Journal Title: Hum Mutat 23 Pages: 552-558
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Proteomic analysis of rat liver peroxisome : Presence of peroxisome-specific isozyme of Ion protease. (2004)
  • Author(s): Kikuchi M, Hatano N, Yokota S, Shimozawa N, Imanaka T, Taniguchi H.
  • Journal Title: J Biol Chem. 279(1) Pages: 421-428
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Peroxisomal localization in the developing mouse cerebellum : Implications for neuronal abnormalities related to deficiencies in peroxisomes (2004)
  • Author(s): Nagase T, Shimozawa N, Takemoto Y, Suzuki Y, Komori M, Kondo N
  • Journal Title: Biochim Biophys Acta. 1671(1-3) Pages: 26-33
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Identification of a New Complementation Group of the Peroxisome Biogenesis Disorders and PEX14 as the Mutated Gene (2004)
  • Author(s): N Shimozawa, T Tsukamoto, T Nagase, Y Takemoto, N Koyama, Y Suzuki, M Komori, T Osumi, G Jeannette, RJA Wanders, N Kondo
  • Journal Title: Hum Mutat. 23(6) Pages: 552-558
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients : Evidence for a founder haplotype for the most common PEX 10 gene mutation (2003)
  • Author(s): N.Shimozawa et al.
  • Journal Title: Am J Med Genet 120A Pages: 40-43
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Mutations in novel peroxin gene PEX 26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation (2003)
  • Author(s): Matsumoto N, Shimozawa N et al.
  • Journal Title: Am J Hum Genet 73 Pages: 233-246
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. In : Roels F, Baes M, De Bie S eds. Peroxisomal Disorders and Regulation of Genes (2003)
  • Author(s): Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Kondo N.
  • Journal Title: Adv Exp Med Biol (Kluwer Academic/Plenum Publishers, New York) 544 Pages: 71
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Genetic Heterogeneity of Peroxisome Biogenesis Disorders Among Japanese Patients : Evidence for a Founder Haplotype for the Most Common PEX10 Gene Mutation. (2003)
  • Author(s): N Shimozawa, T Nagase, Y Takemoto, T Ohura, Y Suzuki, N Kondo.
  • Journal Title: Am J Med Genet 120A Pages: 40-43
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation. (2003)
  • Author(s): Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
  • Journal Title: Am J Hum Genet. 73(2) Pages: 233-246
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Molecular Mechanism of a Temperature Sensitive Phenotype in Peroxisomal Biogenesis Disorders
  • Author(s): K Hashimoto, N Shimozawa et al.
  • Journal Title: Pediatr Res (in press)
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Molecular Mechanism of a Temperature-Sensitive Phenotype in Peroxisomal Biogenesis Disorder
  • Author(s): K Hashimoto, Z Kato, T Nagase, N Shimozawa, K Kuwata, K Omoya, A Li, E Matsukuma, Y Yamamoto, H Ohnishi, H Tochio, M Shirakawa, Y Suzuki, RJA Wanders, N Kondo.
  • Journal Title: Pediatr Res (in press)
  • Description: 「研究成果報告書概要(欧文)」より
• [Book] Peroxisomal Disorders and Regulation of Genes (2003)
  • Author(s): Shimozawa N et al.: In Roels F et al.
  • Total Pages: 429
  • Publisher: Kluwer Academic/Plenum Publishers, New York
  • Description: 「研究成果報告書概要(和文)」より