Stalled RNA polymerase processing in transcription-coupled nucleotide-excision repair
| Project/Area Number |
24681008
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| Research Category |
Grant-in-Aid for Young Scientists (A)
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| Allocation Type | Partial Multi-year Fund |
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| Research Field |
Risk sciences of radiation/Chemicals
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| Research Institution | Nagasaki University |
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Principal Investigator |
OGI Tomoo 長崎大学, 原爆後障害医療研究所, 准教授 (80508317)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| 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)
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| 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 |
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| 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.
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Report
(3 results)
Research Products
(24 results)
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[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.
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Journal Title
Journal of Clinical Investigation
Volume: 124
Issue: 7
Pages: 3137-3146
DOI
Related Report
Peer Reviewed
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[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
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Journal Title
PLoS Genetics
Volume: 8
Issue: 11
Pages: e1002945-e1002945
DOI
NAID
Related Report
Peer Reviewed
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[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
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[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
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