Analysis of promoter regions in Hailey-Hailey disease and Darier's disease genes.
| Project/Area Number |
15591194
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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 | JUNTENDO UNIVERSITY |
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Principal Investigator |
IKEDA Shigaku School of Medicine, Department of Dermatology, Professor, 医学部, 教授 (40193198)
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| Project Period (FY) |
2003 – 2004
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| Project Status |
Completed (Fiscal Year 2004)
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| Budget Amount *help |
¥2,800,000 (Direct Cost: ¥2,800,000)
Fiscal Year 2004: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2003: ¥1,500,000 (Direct Cost: ¥1,500,000)
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| Keywords | Hailey-Hailey disease / Darier's disease / gene / promoter / SP-1 / YY-1 / SP-1 |
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| Research Abstract |
Results obtained by research in 2003.
1) We have identified 6 SNPs on the promoter region (from non-cording to -1200bp) of ATP2C1 (Hailey-Hailey disease (HHD) gene). There was no correlation between these SNPs and disease phenotypes of HHD.
2) Various segments of promoter region of ATP2C1 were cloned into Luciferase vector, and reporter assay was performed using HaCat cell. We have identified +22 to +60 by segment as a expression controlling element for ATP2C1. Additional gel-sift assay utilizing antibodies and mutant decoy DNA segments revealed that two transcription factors, SP-1 and YY-1, could bind to this promoter region.
Results obtained by research in 2004.
1) Co-transfection of ATP2C1 promoter and SP-1 or YY-1 clone into the cells stimulated the expression of ATP2C1.
2) Expression of SP-1 itself was up regulated by raised extracellular calcium concentration in the culture of HaCat cells.
3) Expression of SP-1 was low in HHD keratinocytes and did not respond to raised extracellular calcium concentration in the culture due to abnormally stable-high level of calcium concentration in the cytosole of the cells caused by genetic mutation of ATP2C1.
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Report
(3 results)
Research Products
(37 results)
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[Journal Article] Deficiency of ATP2C1, a golgi ion pump, induces secretory pathway defects in ER-associated degradation and sensitivity to ER-stress.2005
Author(s)
Ramos-Castaneda J, Park YN, Liu M, Hauser K, Rudolph H, Shull GE, Jonkman MF, Mori K, Ikeda S, Ogawa H, Arvan P
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Journal Title
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Therapeutic guidelines for the treatment of generalized pustular psoriasis (GPP) based on a proposed classification of disease severity.2003
Author(s)
Umezawa Y, Ozawa A, Kawasima T, Shimizu H, Terui T, Tagami H, Ikeda S, Ogawa H, Kawada A, Tezuka T, Igarashi A, Harada S
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Journal Title
Description
「研究成果報告書概要(欧文)」より
Related Report
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[Journal Article] Actin Reorganization is Abnormal in Hailey-Hailey Disease Keratinocytes, Due to Decreases in Cellular ATP.2003
Author(s)
Aronchik I, Behne MJ, Leypoldt L, Crumrine D, Epstein Jr EH, Ikeda S, Mizoguchi M, Bench G, Pozzan T, Mauro T
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Journal Title
J Invest Dermatol 121
Pages: 681-687
Description
「研究成果報告書概要(欧文)」より
Related Report
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