Diffusion in the endoplasmic reticulum of an aquaporin-2 mutant causing human nephrogenic diabetes insipidus

J Biol Chem. 2001 Jun 15;276(24):21331-6. doi: 10.1074/jbc.M101901200. Epub 2001 Apr 10.

Abstract

Mutations in the aquaporin-2 (AQP2) water channel cause the hereditary renal disease nephrogenic diabetes insipidus (NDI). The missense mutation AQP2-T126M causes human recessive NDI by retention at the endoplasmic reticulum (ER) of renal epithelial cells. To determine whether the ER retention of AQP2-T126M is due to relative immobilization in the ER, we measured by fluorescence recovery after photobleaching the intramembrane mobility of green fluorescent protein (GFP) chimeras containing human wild-type and mutant AQP2. In transfected LLC-PK1 renal epithelial cells, GFP-labeled AQP2-T126M was localized to the ER, and wild-type AQP2 to endosomes and the plasma membrane; both were localized to the ER after brefeldin A treatment. Photobleaching with image detection indicated that the GFP-AQP2 chimeras were freely mobile throughout the ER. Quantitative spot photobleaching revealed a diffusion-dependent irreversible process whose recovery depended on spot size and was abolished by paraformaldehyde fixation. In addition, a novel slow reversible fluorescence recovery (t(12) approximately 2 s) was characterized whose recovery was independent of spot size and not affected by fixation. AQP2 translational diffusion in the ER was not slowed by the T126M mutation; diffusion coefficients were (in cm(2)/s x 10(-)10) 2.6 +/- 0.5 (wild-type) and 3.0 +/- 0.4 (T126M). Much faster diffusion was found for a lipid probe (diOC(4)(3), 2.7 x 10(-)8 cm(2)/s) in the ER membrane and for unconjugated GFP in the aqueous ER lumen (6 x 10(-)8 cm(2)/s). ER diffusion of GFP-T126M was not significantly affected by up-regulation of molecular chaperones, cAMP activation, or actin filament disruption. ATP depletion by 2-deoxyglucose and azide resulted in comparable slowing/immobilization of wild-type and T126M AQP2. These results indicate that the ER retention of AQP2-T126M does not result from restricted or slowed mobility and suggest that the majority of AQP2-T126M is not aggregated or bound to slowly moving membrane proteins.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Aquaporin 2
  • Aquaporin 6
  • Aquaporins / chemistry
  • Aquaporins / genetics*
  • Aquaporins / physiology*
  • Brefeldin A / pharmacology
  • Cell Line
  • Cell Membrane / physiology
  • Cell Membrane / ultrastructure
  • Diabetes Insipidus, Nephrogenic / genetics*
  • Diffusion
  • Endoplasmic Reticulum / drug effects
  • Endoplasmic Reticulum / physiology*
  • Humans
  • Kidney / physiology
  • Kidney / physiopathology
  • Kinetics
  • Models, Molecular
  • Mutation, Missense*
  • Protein Structure, Secondary
  • Protein Synthesis Inhibitors / pharmacology
  • Recombinant Fusion Proteins / chemistry
  • Recombinant Fusion Proteins / metabolism
  • Transfection
  • Urothelium / physiology
  • Urothelium / physiopathology

Substances

  • AQP2 protein, human
  • Aquaporin 2
  • Aquaporin 6
  • Aquaporins
  • Protein Synthesis Inhibitors
  • Recombinant Fusion Proteins
  • Brefeldin A