Characterization of zebrafish merlot/chablis as non-mammalian vertebrate models for severe congenital anemia due to protein 4.1 deficiency

Development. 2002 Sep;129(18):4359-70. doi: 10.1242/dev.129.18.4359.

Abstract

The red blood cell membrane skeleton is an elaborate and organized network of structural proteins that interacts with the lipid bilayer and transmembrane proteins to maintain red blood cell morphology, membrane deformability and mechanical stability. A crucial component of red blood cell membrane skeleton is the erythroid specific protein 4.1R, which anchors the spectrin-actin based cytoskeleton to the plasma membrane. Qualitative and quantitative defects in protein 4.1R result in congenital red cell membrane disorders characterized by reduced cellular deformability and abnormal cell morphology. The zebrafish mutants merlot (mot) and chablis (cha) exhibit severe hemolytic anemia characterized by abnormal cell morphology and increased osmotic fragility. The phenotypic analysis of merlot indicates severe hemolysis of mutant red blood cells, consistent with the observed cardiomegaly, splenomegaly, elevated bilirubin levels and erythroid hyperplasia in the kidneys. The result of electron microscopic analysis demonstrates that mot red blood cells have membrane abnormalities and exhibit a severe loss of cortical membrane organization. Using positional cloning techniques and a candidate gene approach, we demonstrate that merlot and chablis are allelic and encode the zebrafish erythroid specific protein 4.1R. We show that mutant cDNAs from both alleles harbor nonsense point mutations, resulting in premature stop codons. This work presents merlot/chablis as the first characterized non-mammalian vertebrate models of hereditary anemia due to a defect in protein 4.1R integrity.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Anemia, Hemolytic / genetics*
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Cloning, Molecular
  • Codon, Nonsense
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism
  • DNA Primers
  • DNA, Complementary / genetics
  • DNA, Complementary / isolation & purification
  • Disease Models, Animal
  • Erythrocyte Membrane / physiology
  • Erythrocyte Membrane / ultrastructure
  • Genetic Linkage
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mutation*
  • Neuropeptides*
  • Polymerase Chain Reaction
  • Recombinant Proteins / metabolism
  • Sequence Alignment
  • Sequence Deletion
  • Sequence Homology, Amino Acid
  • Zebrafish / embryology
  • Zebrafish / genetics*

Substances

  • Codon, Nonsense
  • Cytoskeletal Proteins
  • DNA Primers
  • DNA, Complementary
  • Membrane Proteins
  • Neuropeptides
  • Recombinant Proteins
  • erythrocyte membrane band 4.1 protein
  • erythrocyte membrane protein band 4.1-like 1