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The AQP2 mutation V71M causesnephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog

The AQP2 mutation V71M causesnephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog

Authors :
Klein, Noreen
Kümmerer, Nadine
Hobernik, Dominika
Schneider, Dirk
Source :
FEBS Open Bio, Vol 5, Iss 1, Pp 640-646 (2015), FEBS Open Bio
Publication Year :
2015
Publisher :
Wiley, 2015.

Abstract

Graphical abstract<br />Highlights • The aquaporin 2 mutation V71M causes nephrogenic diabetes insipidus in humans. • Val71 is highly conserved in aqua(glycero)porins and points into the translocation pore. • The V71M mutation does not impair the activity and oligomerization of a bacterial homolog.<br />Several point mutations have been identified in human aquaporins, but their effects on the function of the respective aquaporins are mostly enigmatic. We analyzed the impact of the aquaporin 2 mutation V71M, which causes nephrogenic diabetes insipidus in humans, on aquaporin structure and activity, using the bacterial aquaglyceroporin GlpF as a model. Importantly, the sequence and structure around the V71M mutation is highly conserved between aquaporin 2 and GlpF. The V71M mutation neither impairs substrate flux nor oligomerization of the aquaglyceroporin. Therefore, the human aquaporin 2 mutant V71M is most likely active, but cellular trafficking is probably impaired.

Details

Language :
English
ISSN :
22115463
Volume :
5
Issue :
1
Database :
OpenAIRE
Journal :
FEBS Open Bio
Accession number :
edsair.doi.dedup.....934975b0ddd9098765b6f986e014105f