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Analysis of myotonic dystrophy gene using a cDNA for human prolidase.

Research Project

Project/Area Number 63571085
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Human genetics
Research InstitutionKumamoto University

Principal Investigator

ENDO Fumio  Kumamoto University Medical School University Hospital Department of Pediatrics Lecturer, 医学部附属病院, 講師 (00176801)

Project Period (FY) 1988 – 1989
Project Status Completed (Fiscal Year 1989)
Budget Amount *help
¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1989: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1988: ¥1,100,000 (Direct Cost: ¥1,100,000)
Keywordsprolidase / myotonic dystrophy / cDNA / gene / chromosome / gene mapping / RFLP / プロリダ-ゼ欠損症 / ペプチダ-ゼD / プロリダーゼ / 一次構造 / 遺伝子坐 / 遺伝子構造 / 制限酵素断片長多型 / 筋緊張型筋ジストロフィー症
Research Abstract

Prolidase (peptidase D) is a ubiquitous enzyme which splits depeptides with a prolyl residue in the carboxy-terminal position. Polymorphisms of prolidase have been studies by gel electrophoresis, and a tight linkage of the polymorphisms and the myotonic dystrophy trait has been demonstrated. A cDNA probe for prolidase has been expected to be useful for genetic analysis of myotonic dystrophy.
I isolated cDNA clones from human liver and placental cDNA libraries and deduced the primary structure of the enzyme. The gene has been mapped to the short arm of chromosome 19 (19 p13,2). Using the cDNA, I isolated DNA fragments from human prolidase gene and elucidated the structural organization of the gene. The size of the gene is more than 140 kb and has 15 exons.
I investigated RFLPs in the region of prolidase gene and performed the RFLP analysis of genes from families with myotonic dystrophy.

Report

(3 results)
  • 1989 Annual Research Report   Final Research Report Summary
  • 1988 Annual Research Report
  • Research Products

    (19 results)

All Other

All Publications (19 results)

  • [Publications] Endo,F.: "Immunoaffinity purification of human erythrocyte prolidase" Clin.Chim.Acta.176. 143-150 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Endo.F.: "Primary structure and gene localization of human prolidase" J.Biol.Chem.264. 4476-4481 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Endo.F.: "Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency" J.Inher.Metab.Dis.12. 351-354 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Endo.F.: "Biochemical basis of prolidase deficiency:polypeptide and RNA phenotypes and the relation to clinical phenotypes" J.Clin.Invest.85. 162-169 (1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Tanoue,A.: "Structural organization of gene for human prolidase and demonstration of a partial gene deletion in a patient with prolidase deficiency" J.Biol.Chem. (1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Tanoue,A.: "A single nucleotide change in prolidase gene in bibroblasts from two independent patients with prolidase deficiency:expression of the mutant enzyme in NIH 3T3 cells." J.Clin.Invest.(1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Fumio Endo: "Immunoaffinity purification of human erythrocyte prolidase" Clinica Chimica Acta. 176. 143-150 (1988)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Fumio Endo: "Primary Structure and Gene Localization of Human Prolidase" J. Biol. Chem. 264:4476-4481.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] F. Endo: "Deduced Amino Acid Sequence of Human Prolidase and Molecular Analyses of Prolidase Deficiency" J Inger. Metab. Dis. 12:351-354, 1989.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Fumio Endo: "Biochemical Basis of Prolidase Deficiency Polypeptide and RNA phenotypes and the Relation to" J. Clin. Invest. 85:162-169, 1990.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Akito Tanoue: "Structural organization of human prolidase gene and demonstration of partial gene deletion in a patient with prolidase deficeency." J.Biol.Clin.(1990)

    • Related Report
      1989 Annual Research Report
  • [Publications] Akito Tanoue: "A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency:Expression of the mutant enzyme in NIH 3T3 cells." J.Clin.Invest.(1990)

    • Related Report
      1989 Annual Research Report
  • [Publications] Fumio Endo: "Putative genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase in mice:a murine model for hereditary tyrosinemia III." J.Inher.Metab.Dis.(1990)

    • Related Report
      1989 Annual Research Report
  • [Publications] Fumio Endo: "Biochemical basis of prolidase deficiency:polypeptide and RNA phenotypes and the relation to clinical phenotypes." J.Clin.Invest.85. 162-169 (1990)

    • Related Report
      1989 Annual Research Report
  • [Publications] Fumio Endo: "Primary structure and gene localization of human prolidase." J.Biol.Chem.264. 4476-4481 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Fumio Endo: "Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency." J.Inher.Metab.Dis.12. 351-354 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] F.Endo,et.al.: Clinica Chimica Acta. 176. 143-150 (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] F.Endo,et.al.: The Journal of Biological Chemistry. 264. (1989)

    • Related Report
      1988 Annual Research Report
  • [Publications] F.Endo,et.al.: Journal of Inherited Metabolic Disease. 12. (1989)

    • Related Report
      1988 Annual Research Report

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Published: 1988-04-01   Modified: 2016-04-21  

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