Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations

Kidney International
Tomoki AsaiS Sasaki

Abstract

We previously reported three aquaporin-2 (AQP2) gene mutations known to cause autosomal-dominant nephrogenic diabetes insipidus (NDI) (Am J Hum Genet 69:738, 2001). The mutations were found in the C-terminus of AQP2 (721delG, 763 to 772del, and 812 to 818del). The wild-type AQP2 is a 271 amino acid protein, whereas these mutant genes were predicted to encode 330 to 333 amino acid proteins due to the frameshift mutations leading to the creation of a new stop codon 180 nucleotides downstream. The Xenopus oocyte expression study suggested that the trafficking of the mutant AQP2s was impaired. To determine the cellular pathogenesis of these NDI-causing mutations in mammalian epithelial cells, Madin-Darby canine kidney (MDCK) cells were stably transfected with the wild-type AQP2, or the 763 to 772del mutant AQP2, or both. Cells were grown on the membrane support to examine the localization of AQP2 proteins by immunofluorescence microscopy. Confocal immunofluorescence microscopy showed that the wild-type AQP2 was expressed in the apical region, whereas the mutant AQP2 was apparently located at the basolateral region. Furthermore, the wild-type and mutant AQP2s were colocalized at the basolateral region when they were cotransfected, s...Continue Reading

References

Jan 1, 1986·Kidney International·M F Horster, M Stopp
Feb 14, 1995·Proceedings of the National Academy of Sciences of the United States of America·S NielsenM A Knepper
Aug 1, 1994·Current Opinion in Cell Biology·K Matter, I Mellman
Dec 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·S NielsenH W Harris
Feb 1, 1997·Journal of the American Society of Nephrology : JASN·S M MuldersP M Deen
Aug 1, 1997·Current Opinion in Cell Biology·J C Hay, R H Scheller
Aug 1, 1997·Current Opinion in Cell Biology·T Harder, K Simons
Nov 24, 1999·The Journal of Clinical Investigation·B D MoyerB A Stanton
Apr 7, 2000·Brain Research. Brain Research Reviews·C K AbramsT A Bargiello
Feb 15, 2001·Nature Cell Biology·P KellerK Simons
Feb 22, 2001·Annual Review of Physiology·J P Morello, D G Bichet
Mar 14, 2001·The Netherlands Journal of Medicine·C F Eustatia-RuttenA E Meinders
Jan 5, 2002·Physiological Reviews·Søren NielsenMark A Knepper
Aug 23, 2002·Journal of the American Society of Nephrology : JASN·Nannette MarrPeter M T Deen

❮ Previous
Next ❯

Citations

Jul 29, 2005·Histochemistry and Cell Biology·Yuki TajikaKuniaki Takata
Jan 9, 2007·Histochemistry and Cell Biology·Takahiro HasegawaKuniaki Takata
Mar 20, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Daniel WescheNine V A M Knoers
Sep 14, 2006·Proceedings of the National Academy of Sciences of the United States of America·Eisei SoharaShinichi Uchida
May 21, 2005·Molecular & Cellular Proteomics : MCP·Maria BarileMark A Knepper
Mar 9, 2004·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Sei Sasaki
Oct 14, 2005·Kidney International·Michio KuwaharaSei Sasaki
Jun 12, 2012·Acta Histochemica Et Cytochemica·Takeo AokiToshiyuki Matsuzaki
Aug 27, 2005·PLoS Genetics·David J LloydNicholas Gekakis
Aug 6, 2008·International Journal of Environmental Research and Public Health·Hari H P CohlyRajendram V Rajnarayanan
Jan 13, 2012·Kidney International·Karthikeyan ChandrasekaranKandiah Jeyaseelan
Oct 20, 2012·Molecular Aspects of Medicine·Sei Sasaki
Jun 4, 2008·Seminars in Nephrology·Anne J M LoonenPeter M T Deen
Nov 19, 2005·Biology of the Cell·Yumi Noda, Sei Sasaki
Apr 21, 2006·Biochimica Et Biophysica Acta·Yumi Noda, Sei Sasaki
Apr 6, 2005·Biochemical and Biophysical Research Communications·Tomohiro ItohKenichi Ishibashi
Nov 11, 2017·International Journal of Molecular Sciences·Serena MilanoGiuseppe Procino
Dec 10, 2003·The Journal of Cell Biology·Erik-Jan KamsteegPeter M T Deen
Jan 6, 2005·American Journal of Physiology. Renal Physiology·David P BasileAllen W Cowley
Jun 15, 2007·Current Opinion in Nephrology and Hypertension·Sei Sasaki, Yumi Noda
Jan 27, 2010·Nature Reviews. Nephrology·Yumi NodaSei Sasaki
Aug 27, 2005·Journal of the American Society of Nephrology : JASN·Fabrizio de MattiaPeter M T Deen
Sep 2, 2005·American Journal of Physiology. Cell Physiology·Tatemitsu RaiShinichi Uchida
Sep 15, 2005·American Journal of Physiology. Renal Physiology·Jakob NielsenSøren Nielsen
Oct 11, 2005·Health Care for Women International·Mary Carolan
Jul 11, 2006·American Journal of Physiology. Renal Physiology·Joris H RobbenPeter M T Deen
Nov 16, 2006·Expert Opinion on Therapeutic Targets·Kandiah JeyaseelanE Marelyn Wintour
May 18, 2007·American Journal of Physiology. Renal Physiology·Kimberly R Spurgeon-PechmanDavid P Basile
Oct 2, 2009·American Journal of Physiology. Cell Physiology·Naofumi YuiShinichi Uchida
Apr 1, 2004·Hemodialysis International·L W Henderson
May 21, 2020·American Journal of Physiology. Cell Physiology·Robert A FentonHanne B Moeller
Mar 26, 2014·Annals of Clinical Biochemistry·K W Loudon, A C Fry

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.