2004 Fiscal Year Final Research Report Summary
Study of the keratin molecular mechanism based on the analysis of pathological model in epidermalysis bullosaa simplex
| Project/Area Number |
15591172
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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 | Gifu University |
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Principal Investigator |
ICHIKI Yoshiro Gifu University, School of Medicine, Associate professor, 大学院・医学研究科, 助教授 (30223093)
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| Co-Investigator(Kenkyū-buntansha) |
TAKAGI Hajime Gifu University, School of Medicine, Associate professor, 大学院・医学研究科, 助教授 (70226752)
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| Project Period (FY) |
2003 – 2004
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| Keywords | keratin / epidermolysisbullosa |
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| Research Abstract |
We experimented two unrelated families in Japan and Korea having patients with an unique type of EBS and a novel mutation in the keratin gene, KRT5 ; i.e., frameshift and delayed stop codon inconsistent with any subtype described before. The patients showed migratory circinate erythema and multiple vesicles on the circular belt-like areas affected by erythema. Electron microscopy of skin biopsies showed a reduction in the number of keratin intermediate filaments in the basal cells without tonofilament clumping. We identified a novel heterozygous deletion mutation (1649delG of KRT5) in both cases. This deletion is predicted to produce a mutant K5 protein with a frameshift of its terminal 41 amino acids, and 35 amino acids longer than the wild type K5 protein due to a delayed termination codon. Patient skin show positive reactivity to specific antibody which recognize the mutant elongated amino acids both in immunohistochemistry and immunoblotting. Since the same abnormal elongated mutant KRT5 gene was found in the independent families, the predicted abnormal elongated keratin protein is likely to lead to an atypical clinical phenotype that has never been reported. Furthermore to investigate the function of elongated keratin 5 protein, keratin 5 expression in transgenic mice and transfected keratinocyte was analyzed.
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Research Products
(7 results)
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[Journal Article] Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as sporadic case2004
Author(s)
M Nagao-Watanabe, T Fukao, E Matsui, H Kaneko, R Inoue, N Kawamoto, K Kasahara, M Nagai, Y Ichiki, Y Kitajima, N Kondo
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Journal Title
Clin Genet 66
Pages: 236-238
Description
「研究成果報告書概要(和文)」より
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[Journal Article] Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as sporadic case.2004
Author(s)
M Nagao-Watanabe, T Fukao, E Matsui, H Kaneko, R Inoue, N Kawamoto, K Kasahara, M Nagai, Y Ichiki, Y Kitajima, N Kondo
-
Journal Title
Clin Genet 66
Pages: 236-238
Description
「研究成果報告書概要(欧文)」より
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