Mutations in beta-spectrin disrupt axon outgrowth and sarcomere structure

J Cell Biol. 2000 May 15;149(4):931-42. doi: 10.1083/jcb.149.4.931.

Abstract

beta-Spectrin is a major component of the membrane skeleton, a structure found at the plasma membrane of most animal cells. beta-Spectrin and the membrane skeleton have been proposed to stabilize cell membranes, generate cell polarity, or localize specific membrane proteins. We demonstrate that the Caenorhabditis elegans homologue of beta-spectrin is encoded by the unc-70 gene. unc-70 null mutants develop slowly, and the adults are paralyzed and dumpy. However, the membrane integrity is not impaired in unc-70 animals, nor is cell polarity affected. Thus, beta-spectrin is not essential for general membrane integrity or for cell polarity. However, beta-spectrin is required for a subset of processes at cell membranes. In neurons, the loss of beta-spectrin leads to abnormal axon outgrowth. In muscles, a loss of beta-spectrin leads to disorganization of the myofilament lattice, discontinuities in the dense bodies, and a reduction or loss of the sarcoplasmic reticulum. These defects are consistent with beta-spectrin function in anchoring proteins at cell membranes.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Axons / physiology*
  • Axons / ultrastructure
  • Caenorhabditis elegans
  • Caenorhabditis elegans Proteins*
  • Cell Membrane / ultrastructure
  • Cell Polarity
  • DNA Primers
  • DNA, Complementary / genetics
  • Epithelial Cells / ultrastructure
  • Genes, Helminth
  • Genes, Reporter
  • Green Fluorescent Proteins
  • Intestines / ultrastructure
  • Intracellular Membranes / ultrastructure
  • Luminescent Proteins / genetics
  • Molecular Sequence Data
  • Mutation*
  • Sarcomeres / physiology*
  • Sarcomeres / ultrastructure
  • Sequence Homology, Amino Acid
  • Spectrin / genetics*
  • Synaptic Vesicles / physiology

Substances

  • Caenorhabditis elegans Proteins
  • DNA Primers
  • DNA, Complementary
  • Luminescent Proteins
  • unc-70 protein, C elegans
  • Spectrin
  • Green Fluorescent Proteins

Associated data

  • GENBANK/AF261891