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Gene analysis of congenital connective tissue disorders using human collagen gene probes

Research Project

Project/Area Number 62570445
Research Category

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

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionNational Institute of Neuroscience, NCNP

Principal Investigator

KONOMI Hiroshi  Division of Mental Retardation and Birth Defect Research National Institute of Neuroscience, NCNP, 神経研究所疾病研究第二部, 室長 (00186719)

Co-Investigator(Kenkyū-buntansha) MURAKAMI Akira  Division of Mental Retardation and Birth Defect Research, National Institute of, 神経センター神経研究所疾病研究第二部, 流動研究員
SAKURAGAWA Norio  National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP, 神経センター武蔵病院, 部長 (70183374)
ARIMA Masataka  National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP, 神経センター武蔵病院, 副院長 (10032179)
Project Period (FY) 1987 – 1989
Project Status Completed (Fiscal Year 1988)
Budget Amount *help
¥2,400,000 (Direct Cost: ¥2,400,000)
Fiscal Year 1988: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1987: ¥1,600,000 (Direct Cost: ¥1,600,000)
KeywordsMarfan syndrome / osteogenesis imperfecta / collagen / コラーゲン遺伝子 / DNA多型
Research Abstract

1. Analysis of Clooagen Protein Molecules Newly synthesized [3H]proline-labeled proteins produced by skin fibroblasts from eighteen cases of Marfan syndrome, nine cases of Ehlers-Danlos syndrome and seven cases of osteogenesis imperfecta were investigated. We found fibroblasts derived from a patient with osteogenesis imperfecta type II ( lethal form ) produced shortened pro alpha1(I)chain. Further precise analysis revealed that there was a mutaion in CB8 peptide of alpha1(I)chain (a middle portion of triple-herical lesion). In other all cases, we could not detect any abnormalities of type I and III procollagen. However, unusual 185 KDa collagenous protein was synthesized by skin fibroblasts from four patients with marfan syndrome. We identified the 185 KDa band as type IV collagen by immunoprecipitaion and CNBr peptide mapping.
2. Gene Analysis Using Collagen Gene Probes DNA purified from fibroblasts were digested with various kinds of restriction enzymes and were electrophoresed on agarose gels followed by transfered to nitrocelluroce membranes. We analysed the DNA with gene probes of human type I procollagen; Hf677, NJ3 and Nj1/4.1 by southern blotting. So far we could not detect any abnormalities in any cases.
3. Linkage Study of Marfan Syndrome Families with Type I Procollagen Gene We did linkage analysis using restriction fragment length polymorphism ( RFLP ) in the pro alpha2(I)chain by Southern blotting. Before doing the linkage analysis, we checked allelic frequencies of both probes. Allelic frequencies of MspI RFLP and EcoRI RFLP positive were 83% and 69%, respectively. Analysis showed no linkage in two Marfan families, and the probes were not useful in one family.

Report

(3 results)
  • 1988 Annual Research Report   Final Research Report Summary
  • 1987 Annual Research Report

Research Products

(9 results)

All Other

All Publications (9 results)

  • [Publications] Hajime Sawada,et.al.: Exp Cell Res. 171. 94-109 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] George Vasios,et.al.: J.Biol.Chem.263. 2324-2329 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Yasunori Okada,et.al.: FEBS Lett. (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Sawada H; Furthmayr H; Konomi H; Nagai Y: "Immuroelectronmicroscopic localization of extracellular matrix components produced by bovine corneal endothelial cells in vitro." Exp Cell Res. 171. 94-109 (1987)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Vasios G; Nishimura I; Konomi H; Van der Rest M; Ninomiya Y; Olsen BR: "Cartilage type IX collagen-proteoglycan contains a large amino-terminal globular domain encoded by multiple exons." J Biol Chem. 263. 2324-2329 (1988)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Okada Y; Konomi H; Yada T; Kimata K; Nagase H: "Degradation of type IX collagen by matrix metalloproteinase 3 (stromelysin) from human rheumatoid synovial cells" FEBS Lett. (1989)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Yasunori.Okada,et al.: FEBS Lett. (1989)

    • Related Report
      1988 Annual Research Report
  • [Publications] Hajime Sawada: Experimental Cell Research. 171. 94-109 (1987)

    • Related Report
      1987 Annual Research Report
  • [Publications] George Vasios: Journal of Biological Chemistry. (1988)

    • Related Report
      1987 Annual Research Report

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Published: 1987-03-31   Modified: 2016-04-21  

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