Source:http://linkedlifedata.com/resource/pubmed/id/10191086
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
1999-6-3
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| pubmed:databankReference | |
| pubmed:abstractText |
As the first step in generating a transgenic mouse model of nephrogenic diabetes insipidus (NDI), we have analyzed the mouse aquaporin-2 (Aqp2) cDNA and gene and generated a mutated Aqp2 orthologous to NDI-causing human AQP2-T126M. Aqp2 cDNA was isolated from mouse kidney and encoded a 271-amino-acid protein with 90.4% identity to human AQP2. Expression in Xenopus oocytes indicated that Aqp2 encoded a mercurial-sensitive, water-selective channel. Northern blot analysis showed a single 1.7-kb Aqp2 transcript expressed only in kidney (medulla > cortex); transcript expression was increased approximately 20-fold in 48-h water-deprived mice. Immunoblot analysis revealed a 29-kDa glycoprotein in mouse kidney. Sequence comparison of the Aqp2 cDNA with a 5.5-kb mouse genomic DNA indicated three introns (lengths 2.4, 0.9, and 0.6 kb) separating four exons with boundaries at amino acids 120, 175, and 202. Genomic Southern blot analysis revealed a single-copy Aqp2 gene. The mutant Aqp2-T126M was water permeable when expressed in Xenopus oocytes, but was retained at the endoplasmic reticulum (ER) in transfected mammalian cells. The chemical chaperone glycerol produced a redistribution of Aqp2-T126M from ER to plasma membrane/endosomes. These results establish a basis for an Aqp2-T126M transgenic knock-in model of NDI.
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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Apr
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| pubmed:issn |
0888-7543
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 1999 Academic Press.
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| pubmed:issnType |
Print
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| pubmed:day |
1
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| pubmed:volume |
57
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
79-83
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:10191086-Amino Acid Sequence,
pubmed-meshheading:10191086-Animals,
pubmed-meshheading:10191086-Aquaporin 2,
pubmed-meshheading:10191086-Aquaporin 6,
pubmed-meshheading:10191086-Aquaporins,
pubmed-meshheading:10191086-Base Sequence,
pubmed-meshheading:10191086-Blotting, Northern,
pubmed-meshheading:10191086-Blotting, Southern,
pubmed-meshheading:10191086-CHO Cells,
pubmed-meshheading:10191086-Cloning, Molecular,
pubmed-meshheading:10191086-Cricetinae,
pubmed-meshheading:10191086-Diabetes Insipidus, Nephrogenic,
pubmed-meshheading:10191086-Exons,
pubmed-meshheading:10191086-Gene Expression,
pubmed-meshheading:10191086-Immunoblotting,
pubmed-meshheading:10191086-Mice,
pubmed-meshheading:10191086-Models, Genetic,
pubmed-meshheading:10191086-Molecular Sequence Data,
pubmed-meshheading:10191086-Oocytes,
pubmed-meshheading:10191086-Time Factors,
pubmed-meshheading:10191086-Tissue Distribution,
pubmed-meshheading:10191086-Xenopus
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| pubmed:year |
1999
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| pubmed:articleTitle |
cDNA and genomic cloning of mouse aquaporin-2: functional analysis of an orthologous mutant causing nephrogenic diabetes insipidus.
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| pubmed:affiliation |
Department of Physiology, Cardiovascular Research Institute, San Francisco, California, 94143-0521, USA.
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| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.
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