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Types, sites and frequency of XP-gene mutations in xeroderma pigmentosum patients.

Research Project

Project/Area Number 06672258
Research Category

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

Allocation TypeSingle-year Grants
Research Field Human genetics
Research InstitutionKYOTO UNIVERSITY

Principal Investigator

TATSUMI Junko  Kyoto Univ., Graduate School of Medicine. Assistant Prof., 医学研究科, 助手 (80128222)

Co-Investigator(Kenkyū-buntansha) TAKEBE Hiraku  Kyoto Univ., Professor, 医学研究科, 教授 (10028318)
MIYAKOSHI Junji  Kyoto Univ., Lecturer, 医学研究科, 講師 (70121572)
NISHIGORI Chikako  Kyoto Univ., Asssistant Prof., 医学研究科, 助手 (50198454)
YAGI Takashi  Kyoto Univ., Associate Prof., 医学研究科, 助教授 (80182301)
Project Period (FY) 1994 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1995: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1994: ¥1,100,000 (Direct Cost: ¥1,100,000)
Keywordsxeroderma pigmentosum / DNA repair / inherited disease / mutation / skin cancer / ultraviolet light
Research Abstract

We searched for XPA-gene mutations by the restriction enzyme polymorphism in Japanese xeroderma pigmentosum group A (XP-A) patients. We found 56 AlwNI -/- (intron 3, G to C) patients, 4 AlwNI +/- and HphI -/+ (codon 228 C to T) patients, 2 AlwNI +/- and MseI -/+ (codon 116 T to A) patients, one AlwNI +/- and MaeII -/+ (codon 225 G to C) patient, one AlwNI -/- and MseI +/- patient and 2 HphI -/- patients.
We found an XP-A patient who is a compound heterozygote for the splicing mutation of the intron 3/exon 4 junction (AlwNI mutation), and a newly identified mutation at the last nucleotide of exon 5 (MaeII mutation). The new mutation leads to aberrant splicing, produces mRNA with deletion of 7 nucleotides and expresses a truncated XPA protein. The mild symptom of the patient may be due to the residual DNA repair activity of the truncated protein.
We try to detect an yet-unidentified XPF protein by immunological methods using an anti-ERCC1 antibody. A 120 KD band that bound to ERCC1 protein was detected in normal human cells but not in XPF cells, suggesting that the ERCC1 protein makes a complex with the XPF protein in normal cells but each protein alone is unstable in mutant cells.

Report

(3 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • Research Products

    (17 results)

All Other

All Publications (17 results)

  • [Publications] 錦織千佳子: "Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan." Archives of Dermatology. 130. 191-197 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 八木孝司: "Correlation of (6-4) photoproduct formation with transforming mutations in UV-irradiated Ha-ras." Carcinogenesis. 16. 689-695 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] J. -Heiner Kupper: "trans-Dominant inhibition of poly (ADP-ribosyl) ation sensitizes cells against γ-irradiation and N-methyl-N'-nitro-N-nitrosoguanidine but does not limit DNA replication of a polyomavirus replicon." Molecular and cellular biology. 15. 3154-3163 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 松村康洋: "High prevalence of mutations in the p53 gene in poorly defferentiated squamous cell carcinoma in xeroderma pigmentosum patients." Journal of investigative dermatology. 105. 399-401 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 佐藤まゆみ: "Abberant splicing and truncated-protein expression due to a newly identified XPA gene mutation." Mutation research. (印刷中). (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 武部啓: "色素性乾皮症の遺伝子診断" 医学のあゆみ. 174. 458-462 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yagi T., Sato, M., Nishigori, C.and Takebe, H.: "Similarity in the molecular profile of mutations induced by ultraviolet light in shuttle vector plasmids propagated in mouse and human cells." Mutagenesis. 9. 73-77 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Takebe, H., Nishigori, C., Sato, M., Matsumura, Y.and Yagi, T.: "DNA Repair defficiency and its clinical implication." VOS,J-M.H.(ed.), DNA repair mechanisms : impact on human diseases and cancer. R.G.Landes Co.239-249 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Nishigori, C., Moriwaki, S., Takebe, H., Tanaka, T.and Imamura, S.: "Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan." Archives of Dermatology. 130. 191-197 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kupper, J.-H., Muller, M., Jacobson, M.K., Tatsumi-Miyajima, J., Coyle, D.L., Jacobson, E.L.and Burkle, A.: "trans-Dominant inhibition of poly (ADP-ribosyl) ation sensitizes cells against E_i-irradiation and N-methyl-N'-nitro-N-nitrosogua nidine but dose not limit DNA replication of a polyomavirus replicon." Molecular and Cellular Biology. 15. 3154-3163 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yagi, T., Morimoto, T.and Takebe, H.: "Correlation of (6-4) photoproduct formation with transforming mutations in UV-irradiated Ha-ras." Carcinogenesis. 16. 689-695 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sato, M., Nishigori, C., Yagi, T.and Takebe, H.: "Abberant splicing and truncated-protein expression due to a newly identified XPA gene mutation." Mutation Research. (in press). (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 八木孝司: "Similarity in the molecular profile of mutations induced by ultraviolet light in shuttle vector plasmids propagated in mouse and human cells." Mutagenesis. 9. 73-77 (1994)

    • Related Report
      1995 Annual Research Report
  • [Publications] 八木孝司: "Correlation of (6-4)photoproduct formation with transforming mutations in UV-irradiated Ha-ras." Carcinogenesis. 16. 689-695 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 松村康洋: "High prevalence of mutations in the p53 gene in poorly differentiated squamous cell carcinoma in xeroderma pigmentosum patieuts." Journal of Investigative Dermatology. 105. 399-401 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 佐藤まゆみ: "Abberant splicing and truncated-protein expression due to a newly identified XPA gene mutation" Mutation Research. (印刷中). (1996)

    • Related Report
      1995 Annual Research Report
  • [Publications] 佐藤まゆみ: "Far less frequent mutations in ras genes than in the p53 gene in skin tumors of xeroderma pigmentosum patients." Molecular Carcinogenesis. 11. 98-105 (1994)

    • Related Report
      1994 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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