Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells

Blood. 2010 Mar 4;115(9):1804-14. doi: 10.1182/blood-2009-07-232199. Epub 2010 Jan 7.

Abstract

Five spontaneous, allelic mutations in the alpha-spectrin gene, Spna1, have been identified in mice (spherocytosis [sph], sph(1J), sph(2J), sph(2BC), sph(Dem)). All cause severe hemolytic anemia. Here, analysis of 3 new alleles reveals previously unknown consequences of red blood cell (RBC) spectrin deficiency. In sph(3J), a missense mutation (H2012Y) in repeat 19 introduces a cryptic splice site resulting in premature termination of translation. In sph(Ihj), a premature stop codon occurs (Q1853Stop) in repeat 18. Both mutations result in markedly reduced RBC membrane spectrin content, decreased band 3, and absent beta-adducin. Reevaluation of available, previously described sph alleles reveals band 3 and adducin deficiency as well. In sph(4J), a missense mutation occurs in the C-terminal EF hand domain (C2384Y). Notably, an equally severe hemolytic anemia occurs despite minimally decreased membrane spectrin with normal band 3 levels and present, although reduced, beta-adducin. The severity of anemia in sph(4J) indicates that the highly conserved cysteine residue at the C-terminus of alpha-spectrin participates in interactions critical to membrane stability. The data reinforce the notion that a membrane bridge in addition to the classic protein 4.1-p55-glycophorin C linkage exists at the RBC junctional complex that involves interactions between spectrin, adducin, and band 3.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alternative Splicing
  • Amino Acid Sequence
  • Animals
  • Anion Exchange Protein 1, Erythrocyte / deficiency*
  • Anion Exchange Protein 1, Erythrocyte / genetics*
  • Base Sequence
  • Calmodulin-Binding Proteins / blood
  • Calmodulin-Binding Proteins / deficiency*
  • Calmodulin-Binding Proteins / genetics*
  • Codon, Nonsense
  • DNA Primers / genetics
  • Erythrocyte Membrane / metabolism
  • Erythrocytes, Abnormal / metabolism
  • Erythrocytes, Abnormal / pathology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred NOD
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Mutation*
  • Mutation, Missense
  • RNA Stability / genetics
  • Sequence Homology, Amino Acid
  • Spectrin / deficiency*
  • Spectrin / genetics*
  • Spherocytosis, Hereditary / blood*
  • Spherocytosis, Hereditary / genetics*
  • Spherocytosis, Hereditary / pathology

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • Calmodulin-Binding Proteins
  • Codon, Nonsense
  • DNA Primers
  • adducin
  • Spectrin