Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice

Proc Natl Acad Sci U S A. 1999 Sep 14;96(19):10717-22. doi: 10.1073/pnas.96.19.10717.

Abstract

Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). In a comprehensive assay of gene expression, we show the ubiquitous expression of alpha- and gamma-adducins in contrast to the restricted expression of beta-adducin. beta-adducin is expressed at high levels in brain and hematopoietic tissues (bone marrow in humans, spleen in mice). To elucidate adducin's role in vivo, we created beta-adducin null mice by gene targeting, deleting exons 9-13. A 55-kDa chimeric polypeptide is produced from the first eight exons of beta-adducin and part of the neo cassette in spleen but is not detected in peripheral RBCs or brain. beta-adducin null RBCs are osmotically fragile, spherocytic, and dehydrated compared with the wild type, resembling RBCs from patients with hereditary spherocytosis. The lack of beta-adducin in RBCs leads to decreased membrane incorporation of alpha-adducin (30% of normal) and unexpectedly promotes a 5-fold increase in gamma-adducin incorporation into the RBC membrane skeleton. This study demonstrates adducin's importance to RBC membrane stability in vivo.

Publication types

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

MeSH terms

  • Anemia / genetics
  • Animals
  • Blotting, Northern
  • Calmodulin-Binding Proteins / genetics*
  • Calmodulin-Binding Proteins / physiology*
  • Erythrocytes / cytology*
  • Erythroid Precursor Cells / metabolism
  • Exons
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Models, Genetic
  • Mutagenesis
  • Osmolar Concentration
  • Osmotic Fragility / genetics
  • Poly A / analysis
  • RNA / analysis
  • Spherocytosis, Hereditary / genetics
  • Spleen / metabolism
  • Tissue Distribution

Substances

  • Calmodulin-Binding Proteins
  • adducin
  • Poly A
  • RNA