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

  • Author / Creator
    Woods, Naomi
  • 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.

  • Subjects / Keywords
  • Graduation date
    Spring 2010
  • Type of Item
  • Degree
    Master of Science
  • DOI
  • License
    This thesis is made available by the University of Alberta Libraries with permission of the copyright owner solely for non-commercial purposes. This thesis, or any portion thereof, may not otherwise be copied or reproduced without the written consent of the copyright owner, except to the extent permitted by Canadian copyright law.
  • Language
  • Institution
    University of Alberta
  • Degree level
  • Department
  • Supervisor / co-supervisor and their department(s)
  • Examining committee members and their departments
    • Casey, Joe (Physiology)
    • Alexander, Todd (Physiology)
    • LaPointe, Paul (Cell Biology)