Authors:	Klein, Noreen Kümmerer, Nadine Hobernik, Dominika Schneider, Dirk
Title:	The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog
Online publication date:	12-Oct-2022
Year of first publication:	2015
Language:	english
Abstract:	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.
DDC:	500 Naturwissenschaften 500 Natural sciences and mathematics
Institution:	Johannes Gutenberg-Universität Mainz
Department:	FB 09 Chemie, Pharmazie u. Geowissensch.
Place:	Mainz
ROR:	https://ror.org/023b0x485
DOI:	http://doi.org/10.25358/openscience-7947
Version:	Published version
Publication type:	Zeitschriftenaufsatz
License:	CC BY-NC-ND
Information on rights of use:	https://creativecommons.org/licenses/by-nc-nd/4.0/
Journal:	FEBS Open Bio 5
Pages or article number:	640 646
Publisher:	Elsevier on behalf of the Federation of European Biochemical Societies
Publisher place:	Cambridge
Issue date:	2015
ISSN:	2211-5463
Publisher URL:	http://dx.doi.org/10.1016/j.fob.2015.07.003
Publisher DOI:	10.1016/j.fob.2015.07.003
Appears in collections:	DFG-OA-Publizieren (2012 - 2017)