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How do mutations in the XPD result in different skin cancer susceptibilities in patients with xeroderma pigmentosum or trichothiodystrophy?

Research Project

Project/Area Number 20591324
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionNara Medical University

Principal Investigator

MORI Toshio  Nara Medical University, 医学部, 研究教授 (10115280)

Co-Investigator(Kenkyū-buntansha) IWAMOTO Takaaki  奈良県立医科大学, 医学部, 博士研究員 (20448773)
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2009: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2008: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords皮膚発がん / 色素性乾皮症 / 硫黄欠乏性毛髪発育異常症 / 紫外線 / XPD / TFIIH / ヌクレオチド除去修復 / ピリミジンニ量体 / 硫黄欠乏性毛髮発育異常症 / ピリミジン二量体
Research Abstract

We studied how mutations in the XPD gene result in different skin cancer susceptibilities in patients with xeroderma pigmentosum (XP) or trichothiodystrophy (TTD). XP-D and TTD cells were both deficient in the repair of UV-induced DNA damage because of helicase activity defects of TFIIH. Since TFIIH also acts as a coactivator, TTD-specific decrease in TFIIH content possibly results in transcriptional defects, which might be implication for the lack of increased incidence of skin cancers in TTD patients.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (40 results)

All 2011 2010 2009 2008 Other

All Journal Article (18 results) (of which Peer Reviewed: 18 results) Presentation (16 results) Book (2 results) Remarks (4 results)

  • [Journal Article] Cyclosporin A, but not everolimus, inhibits DNA repair mediated by calcineurin : implications for tumorigenesis under immunosuppression.2011

    • Author(s)
      K.M.Thoms, et al
    • Journal Title

      Exp.Dermatol.

      Volume: 20 Pages: 232-236

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Quantitative detection of 4-hydroxyequilenin-DNA adducts in mammalian cells using an immunoassay with a novel monoclonal antibody.2010

    • Author(s)
      Y. Okahashi, T. Iwamoto, N. Suzuki, S. Shibutani, S. Sugiura, S. Itoh, T. Nishiwaki, S. Ueno, T. Mori.
    • Journal Title

      Nucleic Acids Res 38

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Influences of p53 deficiency on the apoptotic response, DNA damage removal and mutagenesis in UVB-exposed mouse skin.2010

    • Author(s)
      H. Ikehata, R. Okuyama, E. Ogawa, S. Nakamura, A. Usami, T. Mori, K. Tanaka, S. Aiba, T. Ono
    • Journal Title

      Mutagenesis 25

      Pages: 397-405

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Proteolytic fragmentation and sugar chains of plasma ADAMTS13 purified by a conformation- dependent monoclonal antibody.2010

    • Author(s)
      H. Hiura, T. Matsui, M. Matsumoto, Y. Hori, A. Isonishi, S. Kato, T. Iwamoto, T. Mori, Y. Fujimura
    • Journal Title

      J.Biochem 148

      Pages: 403-4011

    • NAID

      10027878689

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Influences of p53 deficiency on the apoptotic response, DNA damage removal and mutagenesis in UVB-exposed mouse skin.2010

    • Author(s)
      H.Ikehata, et al
    • Journal Title

      Mutagenesis

      Volume: 25 Pages: 397-405

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Quantitative detection of 4-hydroxyequilenin-DNA adducts in mammalian cells using an immunoassay with a novel monoclonal antibody.2010

    • Author(s)
      Y.Okahashi, et al
    • Journal Title

      Nucleic Acids Res.

      Volume: 38

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.2009

    • Author(s)
      H. Asai, M. Hirano, K. Shimada, T. Kiriyama, Y. Furiya, M. Ikeda, T. Iwamoto, T. Mori, K. Nishinaka, N. Konishi, F. Udaka, S. Ueno
    • Journal Title

      Hum Mol Genet 18

      Pages: 3533-3543

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Interaction with DNA polymerase eta is required for nuclear accumulation of REV1 and suppression of spontaneous mutations in human cells.2009

    • Author(s)
      J. Akagi, C. Masutani, Y. Kataoka, T. Kan, E. Ohashi, T. Mori, H. Ohmori, F. Hanaoka
    • Journal Title

      DNA Repair 8

      Pages: 585-599

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] The development of a filter to enhance the efficacy and safety of excimer light (308 nm) therapy.2009

    • Author(s)
      K. Kobayashi, Y. Yasuda, Y. Shintani, T. Sumitomo, T. Saga, M. Kimura, A. Yamamoto, T. Mori, A. Maeda, Y. Yamaguchi, A. Morita
    • Journal Title

      Photodermatol. Photoimmunol. Photomed 25

      Pages: 30-36

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Infrequent mutation of lysophosphatidic acid receptor-1 gene in hamster pancreatic duct adenocarcinomas and established cell lines.2009

    • Author(s)
      T. Tsujiuchi, M. Furukawa, Y. Obo, A. Yamasaki, M. Hotta, C. Kusunoki, N. Suyama, T. Mori, K. Honoki, N. Fukushima
    • Journal Title

      J.Toxicol.Pathol 22

      Pages: 89-92

    • NAID

      10030977727

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Effect of Prolyl-hydroxyproline (Pro-Hyp), a food-derived collagen peptide in human blood on growth of fibroblasts from mouse skin.2009

    • Author(s)
      Y. Shigemura, K. Iwai, F. Morimatsu, T. Iwamoto, T. Mori, C. Oda, T. Taira, E. Y. Park, Y. Nakamura, K. Sato
    • Journal Title

      J Agric Food Chem 57

      Pages: 444-449

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Interaction with DNA polymerase eta is required for nuclear accumulation of REV1 and suppression of spontaneous mutations in human cells2009

    • Author(s)
      J.Akagi, et al.
    • Journal Title

      DNA Repair 8

      Pages: 585-599

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The development of a filter to enhance the efficacy and safety of excimer light(308nm)therapy2009

    • Author(s)
      K.Kobayashi, et al.
    • Journal Title

      Photodermatol.Photoimmunol.Photomed. 25

      Pages: 30-36

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin2009

    • Author(s)
      H.Asai, et al.
    • Journal Title

      Hum Mol Genet. 18

      Pages: 3533-3543

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The development of a filter to enhance the efficacy and safety of excimer light (308nm) therapy.2009

    • Author(s)
      K. Kobayashi, et al.
    • Journal Title

      Photodermatol. Photoimmunol. Photomed. 25

      Pages: 30-36

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Interaction with DNA polymerase eta is required for nuclear accumulation of REV1 and suppression of spontaneous mutations in human cells.2009

    • Author(s)
      J. Akagi, et al.
    • Journal Title

      DNA Repair 8

      Pages: 585-599

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients2008

    • Author(s)
      T. Nishiwaki, N. Kobayashi, T. Iwamoto, A. Yamamoto, S. Sugiura, Y.-C. Liu, A. Sarasin, Y. Okahashi, M. Hirano, S. Ueno, T. Mori
    • Journal Title

      DNA Repair 7

      Pages: 1990-1998

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Comparative study of nucleotide excision repair defects between XPD-mutated fibrobiasts derived from trichothiodystrophy and xeroderma pigmentosumpatients2008

    • Author(s)
      T. Nishiwaki, et al.
    • Journal Title

      DNA Repair 7

      Pages: 1990-1998

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Presentation] M期細胞における効率的なDNA修復2010

    • Author(s)
      小村潤一郎、池畑広伸、森俊雄、小野哲也
    • Organizer
      日本放射線影響学会第53回大会
    • Place of Presentation
      京都
    • Year and Date
      2010-10-22
    • Related Report
      2010 Final Research Report
  • [Presentation] FUS関連筋萎縮側索硬化症細胞の酸化ストレスに対する脆弱性とDNA損傷の蓄積2010

    • Author(s)
      平野牧人、池田真徳、殿村恭代、森俊雄、中村雄作、楠進、上野聡
    • Organizer
      日本放射線影響学会第53回大会
    • Place of Presentation
      京都
    • Year and Date
      2010-10-20
    • Related Report
      2010 Final Research Report
  • [Presentation] NBS1のDNA損傷トレランス機構の役割2010

    • Author(s)
      柳原啓見、森俊雄、立石智、小林純也、小松賢志
    • Organizer
      日本放射線影響学会第53回大会
    • Place of Presentation
      京都
    • Year and Date
      2010-10-20
    • Related Report
      2010 Final Research Report
  • [Presentation] Dewar型ピリミジン二量体は熱に不安定である2010

    • Author(s)
      森俊雄、吉田淳一、岩本顕聡、池畑広伸、小林信彦
    • Organizer
      第32回日本光医学・光生物学会
    • Place of Presentation
      東京
    • Year and Date
      2010-07-31
    • Related Report
      2010 Annual Research Report 2010 Final Research Report
  • [Presentation] 紫外線損傷応答におけるNBS1の新規機能解析2009

    • Author(s)
      柳原啓見、森俊雄、立石智、小林純也、小松賢志
    • Organizer
      日本放射線影響学会第52回大会
    • Place of Presentation
      広島
    • Year and Date
      2009-11-12
    • Related Report
      2010 Final Research Report
  • [Presentation] ワークショップ「紫外線DNA損傷の修復欠損遺伝病とその分子病態」XPD変異を共通する色素性乾皮症および硫黄欠乏性毛髪発育異常症両患者間でなぜ紫外線皮膚発がん感受性が異なるか2009

    • Author(s)
      森俊雄
    • Organizer
      日本放射線影響学会第52回大会
    • Place of Presentation
      広島
    • Year and Date
      2009-11-11
    • Related Report
      2010 Final Research Report
  • [Presentation] ワークショップ「紫外線DNA損傷の修復欠損遺伝病とその分子病態」DNA単鎖切断修復蛋白アプラタキシンと神経疾患 -常染色体優性・劣性小脳失調症とAAA症候群-2009

    • Author(s)
      平野牧人、森俊雄、池田真徳、浅井宏英、桐山敬生、降矢芳子、上野聡
    • Organizer
      日本放射線影響学会第52回大会
    • Place of Presentation
      広島
    • Year and Date
      2009-11-11
    • Related Report
      2010 Final Research Report
  • [Presentation] XPD変異を共通する色素性乾皮症および硫黄欠乏性毛髪発育異常症両患者間でなぜ紫外線皮膚発がん感受性が異なるか?2009

    • Author(s)
      森俊雄
    • Organizer
      日本放射線影響学会第52回大会
    • Place of Presentation
      広島市南区民文化センター
    • Year and Date
      2009-11-11
    • Related Report
      2009 Annual Research Report
  • [Presentation] 紫外線誘発 Dewar型ピリミジン二量体を認識するモノクローナル抗体の樹立と応用2009

    • Author(s)
      岩本顕聡、岡橋友美子、池畑広伸、小林信彦、森俊雄
    • Organizer
      第31回日本光医学・光生物学会
    • Place of Presentation
      大阪
    • Year and Date
      2009-07-25
    • Related Report
      2010 Final Research Report
  • [Presentation] 複製フォークでのNBS1の新規役割2008

    • Author(s)
      柳原啓見、松本結実、森俊雄、立石智、小林純也、小松賢志
    • Organizer
      日本放射線影響学会第51回大会
    • Place of Presentation
      北九州
    • Year and Date
      2008-11-20
    • Related Report
      2010 Final Research Report
  • [Presentation] トリ細胞におけるミスマッチ修復遺伝子の紫外線損傷修復に対する機能2008

    • Author(s)
      田野恵三、森俊雄、中村純、荒川央、武田俊一、渡邉正己
    • Organizer
      日本放射線影響学会第51回大会
    • Place of Presentation
      北九州
    • Year and Date
      2008-11-20
    • Related Report
      2010 Final Research Report
  • [Presentation] 酸化的DNA損傷修復系への小脳失調原因蛋白アプラタキシンの機能的関与2008

    • Author(s)
      平野牧人、浅井宏英、桐山敬生、池田真徳、降矢芳子、森俊雄、安井明、上野聡
    • Organizer
      日本放射線影響学会第51回大会
    • Place of Presentation
      北九州
    • Year and Date
      2008-11-20
    • Related Report
      2010 Final Research Report
  • [Presentation] XPD変異を共通する二つの遺伝疾患で紫外線皮膚発がん頻度に大差が生じる機構の解析(1)2008

    • Author(s)
      森俊雄、西脇知永、岩本顕聡、小林信彦、上野聡
    • Organizer
      第30回日本光医学・光生物学会
    • Place of Presentation
      松江
    • Year and Date
      2008-07-11
    • Related Report
      2010 Final Research Report
  • [Presentation] XPり変異を共通する二つの遺伝疾患で紫外線皮膚発がん頻度に大差が生じる機構の解析(1)2008

    • Author(s)
      森 俊雄ら
    • Organizer
      第30回日本光医学・光生物学会
    • Place of Presentation
      松江
    • Year and Date
      2008-07-11
    • Related Report
      2008 Annual Research Report
  • [Presentation] Determination of 4-hydroxyequilenin-DNA adducts in tissues from mice treated with conjugated equine estrogens2008

    • Author(s)
      Y.Okahashi, T.Iwamoto, S. Shibutani, S.Ueno, T.Mori
    • Organizer
      American Association for Cancer Research
    • Place of Presentation
      San Diego, USA
    • Year and Date
      2008-04-14
    • Related Report
      2010 Final Research Report
  • [Presentation] XPD変異を共通する二つの遺伝疾患でなぜ紫外線皮膚発がん感受性が異なるか2008

    • Author(s)
      森俊雄
    • Organizer
      太陽紫外線防御研究委員会第18回シンポジウム
    • Place of Presentation
      大阪
    • Year and Date
      2008-03-14
    • Related Report
      2010 Final Research Report
  • [Book] からだと光の事典2010

    • Author(s)
      太陽紫外線防御研究会
    • Total Pages
      421
    • Publisher
      朝倉書店
    • Related Report
      2010 Final Research Report
  • [Book] からだと光の事典2010

    • Author(s)
      太陽紫外線防御研究員会
    • Total Pages
      421
    • Publisher
      朝倉書店
    • Related Report
      2010 Annual Research Report
  • [Remarks] ホームページ等

    • URL

      http://www.naramed-u.ac.jp/~ri/

    • Related Report
      2010 Final Research Report
  • [Remarks]

    • URL

      http://www.naramed-u.ac.jp/~ri/

    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

      http://www.naramed-u.ac.jp/~ri/

    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

      http://www.naramed-u.ac.jp/~ri/

    • Related Report
      2008 Annual Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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