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Stalled RNA polymerase processing in transcription-coupled nucleotide-excision repair

Research Project

Project/Area Number 24681008
Research Category

Grant-in-Aid for Young Scientists (A)

Allocation TypePartial Multi-year Fund
Research Field Risk sciences of radiation/Chemicals
Research InstitutionNagasaki University

Principal Investigator

OGI Tomoo  長崎大学, 原爆後障害医療研究所, 准教授 (80508317)

Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥27,820,000 (Direct Cost: ¥21,400,000、Indirect Cost: ¥6,420,000)
Fiscal Year 2013: ¥8,580,000 (Direct Cost: ¥6,600,000、Indirect Cost: ¥1,980,000)
Fiscal Year 2012: ¥19,240,000 (Direct Cost: ¥14,800,000、Indirect Cost: ¥4,440,000)
Keywordsヌクレオチド除去修復 / DNA修復 / 転写と共役したヌクレオチド除去修復
Outline of Final Research Achievements

UV-sensitive syndrome (UVSS) is characterised by sun-sensitivity without any devastating symptoms. Despite mild clinical manifestations, UVSS-patient cells display complete-null phenotype in transcription-coupled nucleotide-excision repair (TC-NER) activity. Our laboratory identified UVSS pathogenic mutations in the KIAA1530 / UVSSA gene. The UVSSA protein facilitates stable-ubiquitination of RNA polymerase stalled at UV-DNA damage. This stable-ubiquitination is compromised in UVSS-patient cells although RNA polymerase is degraded under a different ubiquitination mechanism.

Report

(3 results)
  • 2014 Final Research Report ( PDF )
  • 2013 Annual Research Report
  • 2012 Annual Research Report
  • Research Products

    (24 results)

All 2015 2014 2013 2012 Other

All Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 1 results,  Acknowledgement Compliant: 1 results) Presentation (17 results) (of which Invited: 2 results) Remarks (2 results)

  • [Journal Article] A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents.2015

    • Author(s)
      Nan Jia, Yuka Nakazawa, Chaowan Guo, Mayuko Shimada, Mieran Sethi, Yoshito Takahashi, Hiroshi Ueda, Yuji Nagayama, Tomoo Ogi
    • Journal Title

      Nature Protocols

      Volume: 10 Issue: 1 Pages: 12-24

    • DOI

      10.1038/nprot.2014.194

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Hypomorphic PCNA mutation underlies a human DNA repair disorder.2014

    • Author(s)
      Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH.
    • Journal Title

      Journal of Clinical Investigation

      Volume: 124 Issue: 7 Pages: 3137-3146

    • DOI

      10.1172/jci74593

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Functional characterization of the novel BRAF complex mutation, BRAF(V600delinsYM), identified in papillary thyroid carcinoma.2013

    • Author(s)
      Matsuse, M.
    • Journal Title

      Int. J. Cancer

      Volume: 132 Issue: 3 Pages: 738-743

    • DOI

      10.1002/ijc.27709

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair2012

    • Author(s)
      Nakazawa Y, Sasaki K, Mitsutake N, Yamashita S, Ogi T, et al
    • Journal Title

      Nat Genet

      Volume: 44(5) Issue: 5 Pages: 586-92

    • DOI

      10.1038/ng.2229

    • NAID

      120006985586

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel syndrome2012

    • Author(s)
      *Ogi T , Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd P, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart G, Taylor M, O'Driscoll M, and Jeggo P
    • Journal Title

      PLoS Genetics

      Volume: 8 Issue: 11 Pages: e1002945-e1002945

    • DOI

      10.1371/journal.pgen.1002945

    • NAID

      120006985789

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Presentation] 放射線感受性および各種発達異常を示す遺伝性疾患の新規責任遺伝子の同定と分子機能解析2014

    • Author(s)
      中沢由華、郭朝万、嶋田繭子、宮崎仁美、唐田清伸、荻朋男
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(神奈川県横浜市)
    • Year and Date
      2014-11-25 – 2014-11-27
    • Related Report
      2013 Annual Research Report
  • [Presentation] Molecular and functional study on the initiation of transcription coupled nucleo tide excision repair2014

    • Author(s)
      Guo C, Nakazawa Y, Shimada M, Jia N, Karata K, Miyazaki H, Ogi T.
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(神奈川県横浜市)
    • Year and Date
      2014-11-25 – 2014-11-27
    • Related Report
      2013 Annual Research Report
  • [Presentation] 転写と共役したヌクレオチド除去修復のin vitro反応系の構築2014

    • Author(s)
      唐田清伸、郭朝万、荻朋男
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(神奈川県横浜市)
    • Year and Date
      2014-11-25 – 2014-11-27
    • Related Report
      2013 Annual Research Report
  • [Presentation] コケイン症候群様の臨床症状を示す遺伝性疾患の責任遺伝子探索2014

    • Author(s)
      宮崎仁美、中沢由華、郭朝万、嶋田繭子、賈楠、唐田清伸、荻朋男
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(神奈川県横浜市)
    • Year and Date
      2014-11-25 – 2014-11-27
    • Related Report
      2013 Annual Research Report
  • [Presentation] エキソーム解析を用いたDNA修復機構欠損性疾患の新規責任遺伝子の探索2014

    • Author(s)
      嶋田繭子、中沢由華、郭朝万、賈楠、宮崎仁美、唐田清伸、荻朋男
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(神奈川県横浜市)
    • Year and Date
      2014-11-25 – 2014-11-27
    • Related Report
      2013 Annual Research Report
  • [Presentation] Molecular cloning and characterisation of new human DNA repair genes2014

    • Author(s)
      Ogi T
    • Organizer
      The 9th 3R Symposium
    • Place of Presentation
      御殿場高原ホテル(静岡県御殿場市)
    • Year and Date
      2014-11-17 – 2014-11-21
    • Related Report
      2013 Annual Research Report
  • [Presentation] Molecular characterization and functional analysis of XRCC4, a novel pathological gene for radiation sensitivity and developmental abnormalities2014

    • Author(s)
      Guo C, Nakazawa Y, Shimada M, Woodbine L, Jia N, Karata K, Miyazaki H, Lehmann A, Jeggo PA, Ogi T.
    • Organizer
      The 9th 3R Symposium
    • Place of Presentation
      御殿場高原ホテル(静岡県御殿場市)
    • Year and Date
      2014-11-17 – 2014-11-21
    • Related Report
      2013 Annual Research Report
  • [Presentation] ERCC1/XPF deficiency causes three NER- deficient disorders: a patient with various symptoms of xeroderma pigmentosum, Cockayne syndrome & Fanconi anemia.2014

    • Author(s)
      Nakazawa Y, Kashiyama K, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Mitsutake N, Lehmann AR, Ogi T.
    • Organizer
      The 9th 3R Symposium
    • Place of Presentation
      御殿場高原ホテル(静岡県御殿場市)
    • Year and Date
      2014-11-17 – 2014-11-21
    • Related Report
      2013 Annual Research Report
  • [Presentation] ゲノム不安定性疾患群の新規責任遺伝子の同定と分子機能解析2014

    • Author(s)
      荻朋男
    • Organizer
      第57回日本甲状腺学会学術集会
    • Place of Presentation
      コングレコンベンションセンター(大阪府大阪市)
    • Year and Date
      2014-11-14
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] ヒストンH3K9メチル化酵素類のDNA二重鎖切断修復反応への関与2014

    • Author(s)
      荻朋男
    • Organizer
      第87回日本生化学会大会 シンポジウム
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2014-10-15 – 2014-10-18
    • Related Report
      2013 Annual Research Report
  • [Presentation] 転写共役ヌクレオチド除去修復の開始反応の分子機構2014

    • Author(s)
      荻朋男
    • Organizer
      日本放射線影響学会第57回大会 ワークショップ
    • Place of Presentation
      鹿児島県民交流センター(鹿児島県鹿児島市)
    • Year and Date
      2014-10-01 – 2014-10-03
    • Related Report
      2013 Annual Research Report
  • [Presentation] DNA修復機構の異常により発症する先天性疾患とゲノム不安定性/発がん2014

    • Author(s)
      荻朋男
    • Organizer
      第20回日本家族性腫瘍学会学術集会 教育講演
    • Place of Presentation
      コラッセ福島(福島県福島市)
    • Year and Date
      2014-06-13
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 紫外線感受性症候群責任遺伝子UVSSAの同定と分子機能解析2012

    • Author(s)
      荻 朋男
    • Organizer
      日本皮膚科学会
    • Place of Presentation
      長崎(招待講演)
    • Year and Date
      2012-04-08
    • Related Report
      2012 Annual Research Report
  • [Presentation] Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair2012

    • Author(s)
      荻 朋男
    • Organizer
      3R meeting
    • Place of Presentation
      兵庫
    • Related Report
      2012 Annual Research Report
  • [Presentation] Molecular cloning and characterisation of KIAA1530/UVSSA, the responsible gene for UV sensitive syndrome complementation group-A2012

    • Author(s)
      荻 朋男
    • Organizer
      BIO JAPAN
    • Place of Presentation
      横浜(招待講演)
    • Related Report
      2012 Annual Research Report
  • [Presentation] 紫外線高感受性症候群責任因子UVSSAによる損傷停止RNAポリメラーゼのユビキチン化修飾メカニズムの解析2012

    • Author(s)
      荻 朋男
    • Organizer
      日本遺伝学会第84回大会
    • Place of Presentation
      福岡
    • Related Report
      2012 Annual Research Report
  • [Presentation] Molecular cloning and characterisation of KIAA1530/UVSSA, the responsible gene for UV sensitive syndrome complementation group-A2012

    • Author(s)
      荻 朋男
    • Organizer
      駿河台国際シンポジウム
    • Place of Presentation
      東京(招待講演)
    • Related Report
      2012 Annual Research Report
  • [Remarks] 長崎大学 がん・ゲノム不安定性研究拠点ホームページ

    • URL

      http://www.nrgic.prj.nagasaki-u.ac.jp/

    • Related Report
      2013 Annual Research Report
  • [Remarks] 長崎大学 がん・ゲノム不安定性研究拠点ホームページ

    • URL

      http://www.nrgic.prj.nagasaki-u.ac.jp/

    • Related Report
      2012 Annual Research Report

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Published: 2012-04-24   Modified: 2019-07-29  

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