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Rapid diagnosis of xeroderma pigmentosum

Research Project

Project/Area Number 25860953
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionNagasaki University

Principal Investigator

TOMIMURA Saori  長崎大学, 病院(医学系), 講師 (30404271)

Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords色素性乾皮症 / DNA修復能の検出 / 遺伝子相補性試験
Outline of Final Research Achievements

Xeroderma pigmentosum (XP) is a rare disease that has extraordinary photosensitivity and the skin-cancer predisposition with an autosomal recessive inheritance. Compromised nucleotide excision repair (NER) activity is known to be the cause of several photosensitive disease including XP. NER activity are divided into two subtypes, one is 'unscheduled DNA synthesis (UDS)', and the other is 'recovery of RNA synthesis (RRS)' that is a specific measure of the transcription-coupled repair. Until very recently, reliable methods for these assays involved measurements of incorporation of radio-labeled nucleosides. We recently developed nonradioactive assay utilizing the alkyne-nucleosides, such as 5-ethynyl-2'-deoxyuridine (EdU) for thymidine alternatives in UDS and 5-ethynyuridine (EU) for uridine in RRS. With an integrated image analyser, we determined the incorporation of EdU as well as EU, which reflected a repair activity of the patient's dermal fibroblasts.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (3 results)

All 2015 2014 2013

All Journal Article (1 results) (of which Peer Reviewed: 1 results) Presentation (2 results)

  • [Journal Article] 長期観察中の色素性乾皮症F群の1例2013

    • Author(s)
      浅井幸,小池雄太,富村沙織,竹中基,宇谷厚志
    • Journal Title

      西日本皮膚科

      Volume: 75 Pages: 508-510

    • NAID

      130004831839

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] 色素性乾皮症を中心とした光線過敏症を呈する症例に関する報告2015

    • Author(s)
      宇谷厚志、◯富村沙織
    • Organizer
      厚生労働省難治性疾患実用化研究事業「ゲノム不安定性を示す難治性遺伝性疾患群の症例収集とゲノム・分子機能解析による病態解明研究」斑 平成26年度第1回斑会議
    • Place of Presentation
      長崎市・ベストウェスタンプレミアホテル長崎
    • Year and Date
      2015-01-30
    • Related Report
      2014 Annual Research Report
  • [Presentation] Four cases of xeroderma pigmentosum diagnosed by non-radioactive system using ethynyluracil derivatives.2014

    • Author(s)
      Tomimura S, Nakazawa Y, Kuwatsuka S, Kuwatsuka Y, Ogi T, Utani A
    • Organizer
      The 39th Annual Meeting of the Japanese Society for Investigative Dermatology
    • Place of Presentation
      吹田市・ホテル阪急エキスポパーク
    • Year and Date
      2014-12-12 – 2014-12-14
    • Related Report
      2014 Annual Research Report

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Published: 2014-07-25   Modified: 2019-07-29  

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