• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Clinical symptoms and molecular basis of group A xeroderma pigmentosum

Research Project

Project/Area Number 06454309
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionOsaka Medical College

Principal Investigator

TAMAI Hiroshi (1995-1996)  Osaka Medical College, Pediatrics, Professor, 医学部, 教授 (30179874)

川村 尚久 (1994)  大阪医科大学, 医学部, 助手 (50247863)

Co-Investigator(Kenkyū-buntansha) OGIHARA Tohru  Osaka Medical College, Pediatrics, Research Associate, 医学部, 助手 (00211128)
永井 章  大阪医科大学, 医学部, 専攻医
玉井 浩  大阪医科大学, 医学部, 講師 (30179874)
Project Period (FY) 1995 – 1996
Project Status Completed (Fiscal Year 1996)
Budget Amount *help
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 1996: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1995: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1994: ¥1,400,000 (Direct Cost: ¥1,400,000)
KeywordsXeroderma pigmentosum / DNA / nucleotide excision repair / A群色素性乾皮症 / DNA修復蛋白質 / XPA蛋白質 / ERCC1蛋白質 / yeast two-hybrid system / E-cluster region / フィルターバインデイング アッセ- / DNA結合能 / DNA修復 / 活性酸素消去酵素 / XPAC蛋白 / RNA解析 / DNA診断
Research Abstract

The molecular basis of group A xcroderma pingmentosum (XP) was investigated by Southern blot analysis of genomic DNA for allelic heterogeneity in group A XP and comparison of clinical symptoms and severity of neurological complications. As previously reported, two group A XP patients (XP-YK and XP-HH) with mild skin lesions and minimal neurological abnormalities had different mutations, one was a homozygote for the nonsense mutation of exon 6 (XP'-YK), while the other was a compound heterozygote for the splicing mutation of intron 3 and the nonsense mutation of exon 6 (XP-HH). The present study revealed that one typical group A XP patient with severe skin lesions and severe neurological complications also was a compound heterozygote for the splicing mutation of intron 3 and the nonsense mutation of exon 6, thus suggesting the nonsense mutation of exon 6 is not always associated with mild skin lesions nor mild neurological manifestations. Further investigation of the sensitivity to UV radiation of fibroblasts from two atypical group A XP patients (XP-YK and XP-HH) with mild skin lesions and minimal neurological abnormalities showed intermediate post-UV colony-forming ability between that of typical group A and group C XP patients. These results suggest that DNA abnormalities are not always consistent with the severity of clinical symptoms, and that mild clinical symptoms may be explained by the residual ability of the cells to repair UV-damaged DNA.

Report

(4 results)
  • 1996 Annual Research Report   Final Research Report Summary
  • 1995 Annual Research Report
  • 1994 Annual Research Report
  • Research Products

    (9 results)

All Other

All Publications (9 results)

  • [Publications] Akira Nagai et al.: "Enhanowent of Damege-speafrc DNA Binding of XPA by tntnoitim with the ERCC′ DNA Repair Protein" Biochoirel and Biophysicl Reseach Communications. 211・3. 960-966 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Akira Nagai, Takashi Mimaki, Kiyoji Tanaka, Makoto Mino: "Clinical symptoms and nolecular basis of group a xeroderma pigmentosum" Pathophysiology. 1. 241-246 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Akira Nagai, Masafumi Saijo, Isao Kuraoka, Toshiro Matsuda, Naohiko Kodo, Yoshimichi Nakatsu, Takashi Mimaki, Makoto Mino, Maureen Biggerstaff, Richard D.Wood, Anneke Sijbers, Jan H.J.Hoeijmakers, Kiyoji Tanaka: "Enhancement of damage-specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein." Biochem.Biophys.Res.Commun.211. 960-966 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Akira Nagai et al.: "Enhancement of Damge-specific DNA Binding of XPA by Interaction coith the ERCC1 DNA Repair Protein" Biochemical and Biophysical Rcseareh Communications. 211・3. 960-966 (1995)

    • Related Report
      1996 Annual Research Report
  • [Publications] Akira Nagai: "Enhancement of Damage-speafic DNA Binding of XPA by Interaetion with the ERCC1 DNA Repair Protein" Bio chemical and Biophysical Research Communications. 211. 960-966 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Hiroshi Tamai: "Effect of thiol-oxidizing agent diamide on NH2C1-induced rat colonic electrolyte secretion" Am.J.Physiol.265. C166-C170 (1993)

    • Related Report
      1994 Annual Research Report
  • [Publications] Takashi Mimaki: "Allelic heterogenity in group A xeroderma pigmentosum" Acta Neurol.Scand.85. 327-330 (1992)

    • Related Report
      1994 Annual Research Report
  • [Publications] Akira Nagai: "Clnical symptoms and molecular basis of group a xeroderma pigmentosum" Pathophysiology. 1. 241-246 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Naohiro Kawamura: "Frontiers of reactive oxygen species in biology and medicine" K.Asada and T.Yoshikawa,edit.EXCERPTA MEDICA,Amsterdam, 578 (1994)

    • Related Report
      1994 Annual Research Report

URL: 

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

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi