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Molecular Genetic Studies on Hereditary Orotic Aciduria

Research Project

Project/Area Number 01480262
Research Category

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

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionNagoya City University

Principal Investigator

WADA Yoshiro  Nagoya City University Medical School Department of Pediatrics Professor, 医学部, 教授 (30004849)

Co-Investigator(Kenkyū-buntansha) SUGIYAMA Naruji  Nagoya City University Medical School Department of Pediatrics Research Scientis, 医学部, 助手 (50150777)
YAZAKI Makoto  Nagoya City University Medical School Department of Pediatrics Research Scientis, 医学部, 助手 (80133479)
KOBAYASHI Masanori  Nagoya City University Medical School Department of Pediatrics Assistant Profess, 医学部, 助手 (50170353)
Project Period (FY) 1989 – 1990
Project Status Completed (Fiscal Year 1990)
Budget Amount *help
¥4,700,000 (Direct Cost: ¥4,700,000)
Fiscal Year 1990: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1989: ¥3,500,000 (Direct Cost: ¥3,500,000)
KeywordsOrotic Aciduria / OPRT / ODC / Lymphoblast / Mutant cDNA / UMPS cDNA / cDNA クロ-ニング / ウリジン / UMP 合成酸素 / 塩基配列 / 1塩基置換 / 皮膚線維芽細胞 / チミジンの取込み / EBウイルス
Research Abstract

Orotidine monophosphate decarboxylase (ODC) was extracted from human erythrocytes and was purified to have the specific activity of 54,000 folds. cDNA clone encoding this enzyme was isolated from human placenta cDNA library. Sequential studies revealed that human orotate phosphoribosyl transferase (OPRT) domain and ODC domain coexisted in the same open reading frame. Then, mutant uridine monophosphate synthetase (UMPS) cDNA, which contained both cDNA of OPRT and ODC, from the patient with hereditary orotic aciduria was analyzed. No difference of mRNA was revealed between the patient and normal controls by means of northern blot. But one point mutation was detected at the connecting part of the both cDNA.

Report

(3 results)
  • 1990 Annual Research Report   Final Research Report Summary
  • 1989 Annual Research Report

Research Products

(18 results)

All Other

All Publications (18 results)

  • [Publications] 森下 秀子他: "乳児早期に診断し得たオロット酸尿症の1例(本邦第1例)" 日本小児科学会雑誌. 90. 2775-2778 (1986)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1990 Final Research Report Summary
  • [Publications] Yazaki,M.et al.: "Increase of Protein Synthesis by Uridine Supplement in Lectin-Stimulated Peripheral Blood Lymphocytes and EB Virus-Transformed B Cell Linc of Hereditary Orotic Aciduria Typel." Tohoku Journal of Experimental Medicine. 153. 189-195 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1990 Final Research Report Summary
  • [Publications] Suchi,M.: "Molecular Genetic Studies on Hereditary Orotic Aciduria.I.Purification of Human Orotidinc S′-Monophosphate Decarboxylase and Cloning of Its cDNA." Nagoya Medical Journal. 32. 207-220 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1990 Final Research Report Summary
  • [Publications] Tsuboi,T.et al.: "Mutation of UMP Synthetase cDNA in a Case of Hereditary Orotic Aciduria.(in press)" Nagoya Medical Journal. 35. (1991)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1990 Final Research Report Summary
  • [Publications] 和田 義郎: "現代病理学大系第10巻A[病因論I]" 中山書店(東京), 77 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1990 Final Research Report Summary
  • [Publications] Yazaki, M. et al.: "Increase of Protein Synthesis by Uridine Supplement in Lectin-Stimulated Peripheral Blood Lymphocytes and EB Virus-Transformed B Cell Line of Hereditary Orotic Aciduria Type 1." Tohoku Journal of Experimental Medicine. 153:2. 189-195 (1987)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1990 Final Research Report Summary
  • [Publications] Suchi, M.: "Molecular Genetic Studies on Hereditary Orotic Aciduria. I. Purification of Human Orotidine-5'-Monophosphate Decarboxylase and Cloning of its cDNA." Nagoya Medical Journal. 32:3/4. 207-220 (1988)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1990 Final Research Report Summary
  • [Publications] Tsuboi, T. et al.: "Mutation of UMP Synthetase cDNA in a Case of Hereditary Orotic Aciduria." Nagoya Medical Journal. 35.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1990 Final Research Report Summary
  • [Publications] 森下 秀子: "乳児早期に診断し得たオロット酸尿症の1例(本邦第1例)" 日本小児科学会雑誌. 90. 2775-2778 (1986)

    • Related Report
      1990 Annual Research Report
  • [Publications] Mariko Suchi: "Molecular genetic studies on hereditary orotic aciduria.Purification of human orotidine 5'ーmonophosphate decarboxylase and cloning of its cDNA." Nagoya Medical Journal. 32. 207-220 (1988)

    • Related Report
      1990 Annual Research Report
  • [Publications] Makoto Yazaki: "Increase of protein synthesis by uridine supplement in lectinーstimulated peripheral lymphocytes and EB virusーtransformed B cell of hereditary orotic aciduria." Tohoku Journal of Experimental Medicine. 153. 189-195 (1987)

    • Related Report
      1990 Annual Research Report
  • [Publications] 須和 万里子: "先天性オロット酸尿症の本態に関する分子遺伝学的研究" 日本先天代謝異常学会雑誌. 5. 23-33 (1989)

    • Related Report
      1990 Annual Research Report
  • [Publications] 坪井 隆: "先天性オロット酸尿症における遺伝子変異の証明" 名古屋市立大学医学会雑誌.

    • Related Report
      1990 Annual Research Report
  • [Publications] 須知万里子 他: "オロット酸尿症のピリミジン代謝" 日本先天代謝異常学会雑誌. 2. 143 (1986)

    • Related Report
      1989 Annual Research Report
  • [Publications] 森下秀子 他: "乳児早期に診断し得たオロット酸尿症の1例(本邦第1例)" 日本小児科学会雑誌. 90. 2775-2778 (1986)

    • Related Report
      1989 Annual Research Report
  • [Publications] Yazaki,M.et al: "Increase of Protein Synthesis by Uridine Supplement in Lectin-stimulated Peripheral Blood Lymphocytes and EB Virus-Transformed B Cell Line of Hereditary Orotic Aciduria Type 1." Tohoku Journal of Experimental Medicine. 153. 189-195 (1987)

    • Related Report
      1989 Annual Research Report
  • [Publications] Suchi,M.: "Molecular Genetic Studies on Hereditary Orotic Aciduria.1.Purification of Human Orotidine 5′-Monophosphate Decarboxylase and Cloning of Its cDNA." Nagoya Medical Journal. 32. 207-220 (1988)

    • Related Report
      1989 Annual Research Report
  • [Publications] 和田義郎: "現代病理学大系 第10巻A[病因論I]" 中山書店, 77 (1988)

    • Related Report
      1989 Annual Research Report

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Published: 1989-03-31   Modified: 2016-04-21  

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