Clinical symptoms and molecular basis of group A xeroderma pigmentosum
| Project/Area Number |
06454309
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Osaka Medical College |
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Principal Investigator |
TAMAI Hiroshi (1995-1996) Osaka Medical College, Pediatrics, Professor, 医学部, 教授 (30179874)
川村 尚久 (1994) 大阪医科大学, 医学部, 助手 (50247863)
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| Co-Investigator(Kenkyū-buntansha) |
OGIHARA Tohru Osaka Medical College, Pediatrics, Research Associate, 医学部, 助手 (00211128)
永井 章 大阪医科大学, 医学部, 専攻医
玉井 浩 大阪医科大学, 医学部, 講師 (30179874)
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| Project Period (FY) |
1995 – 1996
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| Project Status |
Completed (Fiscal Year 1996)
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| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 1996: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1995: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1994: ¥1,400,000 (Direct Cost: ¥1,400,000)
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| Keywords | Xeroderma pigmentosum / DNA / nucleotide excision repair / A群色素性乾皮症 / DNA修復蛋白質 / XPA蛋白質 / ERCC1蛋白質 / yeast two-hybrid system / E-cluster region / フィルターバインデイング アッセ- / DNA結合能 / DNA修復 / 活性酸素消去酵素 / XPAC蛋白 / RNA解析 / DNA診断 |
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| Research Abstract |
The molecular basis of group A xcroderma pingmentosum (XP) was investigated by Southern blot analysis of genomic DNA for allelic heterogeneity in group A XP and comparison of clinical symptoms and severity of neurological complications. As previously reported, two group A XP patients (XP-YK and XP-HH) with mild skin lesions and minimal neurological abnormalities had different mutations, one was a homozygote for the nonsense mutation of exon 6 (XP'-YK), while the other was a compound heterozygote for the splicing mutation of intron 3 and the nonsense mutation of exon 6 (XP-HH). The present study revealed that one typical group A XP patient with severe skin lesions and severe neurological complications also was a compound heterozygote for the splicing mutation of intron 3 and the nonsense mutation of exon 6, thus suggesting the nonsense mutation of exon 6 is not always associated with mild skin lesions nor mild neurological manifestations. Further investigation of the sensitivity to UV radiation of fibroblasts from two atypical group A XP patients (XP-YK and XP-HH) with mild skin lesions and minimal neurological abnormalities showed intermediate post-UV colony-forming ability between that of typical group A and group C XP patients. These results suggest that DNA abnormalities are not always consistent with the severity of clinical symptoms, and that mild clinical symptoms may be explained by the residual ability of the cells to repair UV-damaged DNA.
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Report
(4 results)
Research Products
(9 results)
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[Publications] Akira Nagai, Masafumi Saijo, Isao Kuraoka, Toshiro Matsuda, Naohiko Kodo, Yoshimichi Nakatsu, Takashi Mimaki, Makoto Mino, Maureen Biggerstaff, Richard D.Wood, Anneke Sijbers, Jan H.J.Hoeijmakers, Kiyoji Tanaka: "Enhancement of damage-specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein." Biochem.Biophys.Res.Commun.211. 960-966 (1995)
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