PMID: 11929850Apr 4, 2002Paper

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus

Human Molecular Genetics
N MarrPeter M T Deen

Abstract

Autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin, is caused by mutations in the Aquaporin-2 (AQP2) gene. Analysis of a new family with dominant NDI revealed a single nucleotide deletion (727deltaG) in one AQP2 allele, which encoded an AQP2 mutant with an altered and extended C-terminal tail. When expressed in oocytes, the tetrameric AQP2-727deltaG was retained within the cell. When co-expressed, AQP2-727deltaG, but not a mutant in recessive NDI (AQP2-R187C), formed hetero-oligomers with wild-type (wt) AQP2 and reduced the water permeability of these oocytes, because of a reduced plasma membrane expression of wt-AQP2. Expressed in renal epithelial cells, AQP2-727deltaG predominantly localized to the basolateral membrane and late endosomes/lysosomes, whereas wt-AQP2 was expressed in the apical membrane. Upon co-expressing in these cells, wt-AQP2 and AQP2-727deltaG mainly co-localized to late endosomes/lysosomes. In conclusion, hetero-oligomerization of AQP2-727deltaG with wt-AQP2 and consequent mistargeting of this complex to late endosomes/lysosomes results in absence of AQP2 in the apical membrane, which can explain dominant NDI in this famil...Continue Reading

Citations

Apr 24, 2008·Pflügers Archiv : European journal of physiology·Michelle Boone, Peter M T Deen
Mar 20, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Daniel WescheNine V A M Knoers
Aug 2, 2003·Current Opinion in Cell Biology·Yoram AltschulerSharon L Milgram
Aug 23, 2002·Trends in Cell Biology·Mary SteinTamara Roitbak
Jun 6, 2003·Kidney International·Tomoki AsaiSei Sasaki
May 31, 2008·Human Molecular Genetics·Marco D SoraniGeoffrey T Manley
Jul 11, 2012·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Christiane TrimpertPeter M T Deen
Jan 14, 2004·Kidney International·Hassane IzzedineGilbert Deray
Oct 14, 2005·Kidney International·Michio KuwaharaSei Sasaki
Oct 12, 2012·American Journal of Physiology. Cell Physiology·D Ross DuBoseRobert A Nicholas
Jan 19, 2007·American Journal of Physiology. Renal Physiology·Peijun P ShiBaoli Yang
Aug 27, 2005·PLoS Genetics·David J LloydNicholas Gekakis
Apr 10, 2009·Journal of the American Society of Nephrology : JASN·Bas W M van BalkomPeter M T Deen
May 23, 2007·BioDrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy·Joris H Robben, Peter M T Deen
Nov 15, 2002·Paediatric Drugs·Tim Cheetham, Peter H Baylis
Sep 14, 2006·Proceedings of the National Academy of Sciences of the United States of America·Eisei SoharaShinichi Uchida
Dec 10, 2003·The Journal of Cell Biology·Erik-Jan KamsteegPeter M T Deen
Oct 20, 2012·Molecular Aspects of Medicine·Sei Sasaki
May 10, 2016·Best Practice & Research. Clinical Endocrinology & Metabolism·Daniel G Bichet, Detlef Bockenhauer
Jun 4, 2008·Seminars in Nephrology·Anne J M LoonenPeter M T Deen
May 13, 2008·Human Mutation·Marco D SoraniKathleen M Giacomini
Nov 19, 2005·Biology of the Cell·Yumi Noda, Sei Sasaki
Mar 30, 2010·Vox Sanguinis·K KarpasitouF Poli
Apr 21, 2006·Biochimica Et Biophysica Acta·Yumi Noda, Sei Sasaki
Apr 25, 2006·Biochimica Et Biophysica Acta·Moniek van BeestPeter M T Deen
Jan 18, 2005·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·D MorinA Kervran
Sep 1, 2004·Biochemical and Biophysical Research Communications·Yumi NodaSei Sasaki
Nov 4, 2006·Néphrologie & thérapeutique·Daniel Georges Bichet
Apr 4, 2006·Advances in Chronic Kidney Disease·Daniel G Bichet
May 23, 2006·Seminars in Nephrology·Daniel G Bichet
Jun 17, 2015·Nature Reviews. Nephrology·Detlef Bockenhauer, Daniel G Bichet
Dec 20, 2005·Journal of Korean Medical Science·Hae Il CheongYong Choi
Aug 12, 2005·Journal of the American Society of Nephrology : JASN·T Mary Fujiwara, Daniel G Bichet
Aug 27, 2005·Journal of the American Society of Nephrology : JASN·Fabrizio de MattiaPeter M T Deen

❮ 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.