Possible new complementation group of xeroderma pigmentosum
| Project/Area Number |
17591167
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Osaka Medical College |
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Principal Investigator |
MORIWAKI Shinichi Osaka Medical College, Faculty of Medicine, Associate Professor (40303565)
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| Co-Investigator(Kenkyū-buntansha) |
MINOSHIMA Shinsei Hamamatsu University School of Medicine, Photon Medical Research Center, Professor (90181966)
SUGIMURA Haruhiko Hamamatsu University School of Medicine, Faculty of Medicine, Professor (00196742)
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| Project Period (FY) |
2005 – 2006
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| Project Status |
Completed (Fiscal Year 2006)
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| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2006: ¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 2005: ¥1,800,000 (Direct Cost: ¥1,800,000)
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| Keywords | DNA repair / DNA damage / Ultraviolet / xeroderma pigmentosum / ucomplementation group / 色素性患皮症 / マイクロアレイ / 体細胞ハイブリッド |
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| Research Abstract |
Xeroderma pigmentosum (XP) is an autosomal recessive photosensitive disease with abnormal pigmentation and an extremely high incidence of skin cancers. Cells from patients with XP are hypersensitive to killing by ultraviolet (UV), which is associated with impaired ability to repair UV-induced DNA damages. There are genetically different seven nucleotide excision repair (NER) deficient groups (A～G) and a NER proficient form (XP variant). We have been receiving more than 348clinical samples for the diagnosis of XP for these five years and 108 patients were newly diagnosed as having XP in our laboratory. Among them, we found 8 unusual Japanese XP cases. Those patients (17～55 y.o.) are not related and have mild clinical features with a few skin cancers in areas exposed to sunlight and so far any evidence for neurological abnormalities was not detected. Fibroblasts derived from those patients were hypersensitive to UV irradiation compared to cells from normal subjects and less sensitive to UV than XP-A XP-C and XP-D cells, while the levels of post-UV unscheduled DNA synthesis (UDS) in those patients were less than 30% of normal, respectively. Complementation test by cell fusion technique and a plasmid host cell reactivation assay revealed that those patients did not belong to XP group A, B, C, D, F and G. DNA repair studies and gene analysis indicated that those patients were not in XP group E and XP variant. Cell fusion analysis using those cell strains implied that there were at least two more new XP complementation groups. cDNA and miRNA microarray analyses showed the decreased expression of ATM, CLSPN and FANCD. Continuing molecular and biochemical analyses using the cells from those patients should give a new insight in NER pathway.
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Report
(3 results)
Research Products
(17 results)
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[Journal Article] Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type2007
Author(s)
Tanioka M, Masaki T, Ono R, Nagano T, Otoshi-Honda E, Matsumura Y, Takigawa M, Inui H, Miyachi Y, Moriwaki S, Nishigori C
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Journal Title
J Invest Dermatol 127
Pages: 1745-1751
Description
「研究成果報告書概要(欧文)」より
Related Report
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[Journal Article] Heterozygous individuals bearing a non-functional allele at XPA gene exist in nearly 1% of Japanese populations2006
Author(s)
Hirai, Y Kodama, S Moriwaki, A Noda, H M Cullings, D G MacPhee, K Kodama, K Mabuchi, K H Kraemer, C E Land, N Nakamura
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Journal Title
Mutation Research Fund Mol M 601
Pages: 171-178
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] In the presence of ferritin, visible light induces lipid peroxidation of the porcine photoreceptor outer segment2006
Author(s)
Ohishi, K., Zhang, X.M., Moriwaki, S., Hiramitsu, T., Matsugo, S.
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Journal Title
Free Radic.Res. 40
Pages: 799-807
Description
「研究成果報告書概要(欧文)」より
Related Report
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