2006 Fiscal Year Final Research Report Summary
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 |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | Clinical Research Center, Chiba National Hospital |
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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)
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| Project Period (FY) |
2005 – 2006
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| Keywords | aquaporin / water channel / glycerol channel / genome sequenceing / SNP / mutation / exon / PCR |
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| 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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[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
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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
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