Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton

Cell. 1996 Sep 20;86(6):917-27. doi: 10.1016/s0092-8674(00)80167-1.

Abstract

The red blood cell (RBC) membrane protein AE1 provides high affinity binding sites for the membrane skeleton, a structure critical to RBC integrity. AE1 biosynthesis is postulated to be required for terminal erythropoiesis and membrane skeleton assembly. We used targeted mutagenesis to assess AE1 function in vivo. RBCs lacking AE1 spontaneously shed membrane vesicles and tubules, leading to severe spherocytosis and hemolysis, but the levels of the major skeleton components, the synthesis of spectrin in mutant erythroblasts, and skeletal architecture are normal or nearly normal. The results indicate that AE1 does not regulate RBC membrane skeleton assembly in vivo but is essential for membrane stability. We postulate that stabilization is achieved through AE1-lipid interactions and that loss of these interactions is a key pathogenic event in hereditary spherocytosis.

Publication types

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

MeSH terms

  • Animals
  • Anion Exchange Protein 1, Erythrocyte / genetics
  • Anion Exchange Protein 1, Erythrocyte / metabolism*
  • Base Sequence
  • Binding Sites
  • Cytoskeleton / metabolism
  • DNA Primers / genetics
  • Erythrocyte Membrane / metabolism*
  • Erythrocyte Membrane / ultrastructure
  • Erythrocytes / metabolism
  • Erythrocytes / ultrastructure
  • Female
  • Gene Targeting
  • Hemolysis / genetics
  • Hemolysis / physiology
  • In Vitro Techniques
  • Mice
  • Mice, Knockout
  • Microscopy, Electron, Scanning
  • Pregnancy
  • Spectrin / biosynthesis
  • Spherocytosis, Hereditary / blood
  • Spherocytosis, Hereditary / genetics

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • DNA Primers
  • Spectrin