Genomic Analysis of Human Aquaporin Genes
Project/Area Number |
17590854
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Kidney internal medicine
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Research Institution | Clinical Research Center, Chiba National Hospital |
Principal Investigator |
ISHIBASHI Kenichi Chiba East Hospital, Clinical Research Center, Department of Molecular Biology, chief, 分子生物研究部, 部長 (80223022)
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Co-Investigator(Kenkyū-buntansha) |
KOBAYASHI Kastuki Chiba East Hospital, Ibido, sub-chief, 室長 (40415451)
山田 研一 独立行政法人国立病院機構(千葉東病院臨床研究センター), 病態機能研究部長
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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 |
¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 2006: ¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 2005: ¥1,900,000 (Direct Cost: ¥1,900,000)
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Keywords | aquaporin / water channel / glycerol channel / genome sequenceing / SNP / mutation / exon / PCR / ヒトゲノム / 偽遺伝子 / エクソン / スプライスバリアント |
Research Abstract |
We analyzed human aquaporins (AQP3, 6, 10, 11, 12) for SNP in exons using fifty healthy volunteers after the approval of ethical committee of Chiba National Hospital. SNPs were identified by direct-sequencing PCR products covering human AQP exons. AQP3 had 5 SNPs including 2 nonsynonimous SNPs (N>D, M>V). AQP6 had 3 SNPs, all nonsynonimous (S>A, I>S, I>V). AQP10 had 7 SNPs including 4 nonsynonimous SNPs (R>Q, R>C, V>I, H>Y). AQP11 had 2 SNPs including one nonsynonimous (G>S). AQP12 had 5 SNPs including 3 nonsynonimous SNPs (A>T, Q>E, M>T). Some of them may be non-functional mutation as some AQP knockout mice and human are apparently normal : AQP3, AQP6, AQP10 and AQP12. A portion of these results were reported at the annual meeting of Japanese Society of Nephrology 2006.
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Report
(3 results)
Research Products
(25 results)
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[Journal Article] Disruption of aquaporin-11 produces polycystic kidneys following vacuolization of the proximal tubule.2005
Author(s)
Morishita Y, Matsuzaki T, Hara-chikuma M, Andoo A, Shimono M, Matsuki A, Kobayashi K, Ikeda M, Yamamoto T, Verkman AS, Kusano E, Ookawara S, Takata K, Sasaki S, Ishibashi K
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Journal Title
Mol. Cell. Biol. 25
Pages: 7770-7779
Description
「研究成果報告書概要(和文)」より
Related Report
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[Journal Article] Disruption of aquaporin-11 produces polycystic kidneys following vacuolization of the proximal tubule.2005
Author(s)
Morishita Y, Matsuzaki T, Hara-chikuma M, Andoo A, Shimono M, Matsuki A, KobayashiK, Ikeda M, Yamamoto T, Verkman AS, Kusano E, Ookawara S, Takata K, Sasaki S, Ishibashi K
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Journal Title
Mol. Cell. Biol. 25
Pages: 7770-7779
Description
「研究成果報告書概要(欧文)」より
Related Report
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