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Permanent link (DOI): https://doi.org/10.7939/R3SS8Z

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Characterization of a newly identified kidney Anion Exchanger 1 mutant, C479W Open Access

Descriptions

Other title
Subject/Keyword
Trafficking
kAE1
Rescue
C479W
dRTA
Type of item
Thesis
Degree grantor
University of Alberta
Author or creator
Woods, Naomi
Supervisor and department
Cordat, Emmanuelle (Physiology)
Examining committee member and department
LaPointe, Paul (Cell Biology)
Alexander, Todd (Physiology)
Casey, Joe (Physiology)
Department
Department of Physiology
Specialization

Date accepted
2010-03-16T15:24:31Z
Graduation date
2010-06
Degree
Master of Science
Degree level
Master's
Abstract
Anion Exchanger 1, AE1, is a membrane glycoprotein that functions as a dimer in the red blood cells (RBC) as well the kidney. It functions to exchange Cl- for HCO3- in an electroneutral manner, with the RBC AE1 having an additional function in maintaining its biconcave shape. Mutations in AE1 can cause Hereditary Spherocytosis (HS) and distal Renal Tubular Acidosis (dRTA). A mutation, C479W, has been discovered in Edmonton that caused the rare incidence of HS and dRTA in young patient who is heterozygous for C479W and G701D, a recessive dRTA mutation. Expression in MDCK cells has demonstrated that C479W AE1 is retained intracellularly, is misfolded, but can dimerize. C479W AE1’s trafficking to the plasma membrane is not rescued by interaction with WT protein, or the small molecules glycerol and DMSO, or by reduced temperature. C479W AE1 also has an increased interaction with the ER chaperone protein, Calnexin.
Language
English
DOI
doi:10.7939/R3SS8Z
Rights
License granted by Naomi Woods (nrwoods@ualberta.ca) on 2010-03-15T14:54:34Z (GMT): Permission is hereby granted to the University of Alberta Libraries to reproduce single copies of this thesis and to lend or sell such copies for private, scholarly or scientific research purposes only. Where the thesis is converted to, or otherwise made available in digital form, the University of Alberta will advise potential users of the thesis of the above terms. The author reserves all other publication and other rights in association with the copyright in the thesis, and except as herein provided, neither the thesis nor any substantial portion thereof may be printed or otherwise reproduced in any material form whatsoever without the author's prior written permission.
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