Comprehensive analyses of the nucleotide excision repair (NER) molecular mechanisms

• Project/Area Number: 22710056
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Risk sciences of radiation/Chemicals
• Research Institution: Nagasaki University
• Principal Investigator: OGI Tomoo 長崎大学, 医歯薬学総合研究科, 准教授 (80508317)
• Project Period (FY): 2010 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2010: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
• Keywords: DNA修復 / 放射線DNA損傷 / 突然変異 / 発がん / ヌクレオチド除去修復

Research Abstract

Nucleotide excision repair (NER) is a versatile DNA repair system. SiRNA-screening and next generation DNA sequencing were performed to identify novel NER factors. We found that the UVSSA gene (formerly known as KIAA1530) is involved in the transcription-coupled nucleotide-excision repair (TC-NER). The UVSSA protein interacts with TC-NER machinery and facilitates ubiquitination of RNA polymerase IIo stalled at DNA damage sites.

Research Products

• [Journal Article] Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia. (2013)
  • Author(s): Kashiyama, K, Nakazawa, Y, Pilz, DT, Guo, C, Sasaki, K, et al.
  • Journal Title: The American Journal of Human Genetics Volume: 92 Issue: 5 Pages: 807-819
  • DOI: 10.1016/j.ajhg.2013.04.007
  • 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
  • Peer Reviewed
• [Journal Article] Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair (2012)
  • 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
  • Peer Reviewed
• [Journal Article] Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel syndrome (2012)
  • 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
  • Peer Reviewed
• [Journal Article] miR-196a downregulation increases the expression of type I and III collagens in keloid fibroblasts (2012)
  • Author(s): Kashiyama K, Mitsutake N, Matsuse M, Ogi T, Saenk V, Ujifuku K, Utani A, Hirano A, Yamashita S
  • Journal Title: J Invest Dermatol Volume: 132(6) Issue: 6 Pages: 1597-1604
  • DOI: 10.1038/jid.2012.22
  • NAID: 120006985401
  • Peer Reviewed
• [Journal Article] Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. (2011)
  • Author(s): 松本 祥幸
  • Journal Title: DNA Repair Volume: 10 Issue: 3 Pages: 314-321
  • DOI: 10.1016/j.dnarep.2010.12.002
  • Peer Reviewed
• [Presentation] Molecular cloning andcharacterisation of KIAA1530/UVSSA,the responsible gene for UV sensitive syndrome complementation group-A (2012)
  • Author(s): 荻 朋男
  • Organizer: バイオジャパン(招待講演)
  • Place of Presentation: 横浜
• [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(招待講演)
  • Place of Presentation: 長崎
• [Presentation] UVSSA, a novel VHS-domain protein responsible for UV-sensitive syndrome, facilitates damage-dependent processing of RNA polymerase IIo in TC-NER (2012)
  • Author(s): 荻 朋男
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: 横浜
• [Presentation] Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair (2012)
  • Author(s): 荻 朋男
  • Organizer: 3R meeting
  • Place of Presentation: 兵庫
• [Presentation] Molecular cloning and characterisation of KIAA1530/UVSSA, the responsible gene for UV sensitive syndrome complementation group-A (2012)
  • Author(s): 荻 朋男
  • Organizer: BIO JAPAN
  • Place of Presentation: 横浜
  • Invited
• [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
• [Presentation] Molecular cloning and characterisation of KIAA1530/UVSSA, the responsible gene for UV sensitive syndrome complementation group-A (2012)
  • Author(s): 荻 朋男
  • Organizer: 駿河台国際シンポジウム
  • Place of Presentation: 東京
  • Invited
• [Presentation] Molecular cloning andcharacterisation of UVSSA, the responsiblegene for UV sensitive syndromecomplementation group-A (UVsS-A) (2011)
  • Author(s): 荻 朋男
  • Organizer: Responses to DNA damage: frommolecular mechanism to human disease(招待講演)
  • Place of Presentation: Egmond aan Zee (オランダ)
• [Presentation] The role of three DNA polymerases and their accessory factors in the repair synthesis step of nucleotide excision repair. (2011)
  • Author(s): 荻 朋男
  • Organizer: Responses to DNA damage: from molecular mechanism to human disease
  • Place of Presentation: Egmond aan Zee (オランダ)
  • Invited
• [Presentation] Three DNApolymerasesrecruited by differentmechanisms carry out NER repairsynthesis in human cells (2010)
  • Author(s): 荻 朋男
  • Organizer: 日本がん学会総会
  • Place of Presentation: 大阪
• [Presentation] ヌクレオチド除去修復機構でのDNAポリメラーゼの機能解析 (2010)
  • Author(s): 荻朋男
  • Organizer: 日本がん学会総会
  • Place of Presentation: 大阪
• [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
  • Author(s): 荻 朋男
  • Organizer: 日本皮膚科学会
  • Place of Presentation: 長崎
  • Invited
• [Remarks] ホームページ
  • URL: http://www.nrgic.prj.nagasaki-u.ac.jp/
• [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/
• [Patent(Industrial Property Rights)] 日焼けの原因遺伝子発明者:荻 朋男 他3名 (2011)
  • Inventor(s): 荻 朋男 他3名
  • Industrial Property Rights Holder: 長崎大学
  • Industrial Property Number: 2011-071082
  • Filing Date: 2011-03-28
• [Patent(Industrial Property Rights)] 損傷DNA修復物質のスクリーニング方法 (2010)
  • Inventor(s): 荻 朋男 他3名
  • Industrial Property Rights Holder: 長崎大学
  • Industrial Property Number: 2009-172521
  • Filing Date: 2010-01-28
  • Overseas
• [Patent(Industrial Property Rights)] 損傷DNA修復物質のスクリーニング方法 (2009)
  • Inventor(s): 荻 朋男 他3名
  • Industrial Property Rights Holder: 長崎大学
  • Industrial Property Number: 2009-172521
  • Filing Date: 2009-07-23