Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton

Nat Genet. 1996 Oct;14(2):227-30. doi: 10.1038/ng1096-227.

Abstract

Band 3 is the most abundant integral protein of the red blood cell membrane. It performs two critical biological functions: maintaining ionic homeostasis, by transporting Cl- and HCO3-ions, and providing mechanical stability to the erythroid membrane. Erythroid band 3 (AE1) is one of three anion exchangers that are encoded by separate genes. The AE1 gene is transcribed by two promoters: the upstream promoter produces erythroid band 3, whereas the downstream promoter initiates transcription of the band 3 isoform in kidney. To assess the biological consequences of band 3 deficiency, we have selectively inactivated erythroid but not kidney band 3 by gene targeting in mice. Although no death in utero occurred, the majority of homozygous mice die within two weeks after birth. The erythroid band 3 null mice show retarded growth, spherocytic red blood cell morphology and severe haemolytic anaemia. Remarkably, the band 3-/- red blood cells assembled normal membrane skeleton thus challenging the notion that the presence of band 3 is required for the stable biogenesis of membrane skeleton. The availability of band 3-/- mice offers a unique opportunity to investigate the role of erythroid band 3 in the regulation of membrane-skeletal interactions, anion transport and the invasion and growth of malaria parasite into red blood cells.

Publication types

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

MeSH terms

  • Alleles
  • Anemia, Hemolytic / blood*
  • Anemia, Hemolytic / genetics
  • Animals
  • Anion Exchange Protein 1, Erythrocyte / analysis
  • Anion Exchange Protein 1, Erythrocyte / genetics
  • Anion Exchange Protein 1, Erythrocyte / physiology*
  • Cell Membrane / ultrastructure
  • Erythrocyte Membrane / chemistry
  • Erythrocytes / chemistry
  • Erythrocytes / ultrastructure
  • Gene Targeting*
  • Genes / genetics
  • Growth
  • Homozygote
  • Kidney / chemistry
  • Kidney / cytology
  • Membrane Proteins / analysis
  • Mice
  • Mice, Mutant Strains
  • Spherocytes / cytology*
  • Spherocytes / ultrastructure
  • Splenomegaly

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • Membrane Proteins