Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity

Proc Natl Acad Sci U S A. 2007 Oct 9;104(41):16080-5. doi: 10.1073/pnas.0702451104. Epub 2007 Sep 27.

Abstract

Alpha-actinin-4 is a widely expressed protein that employs an actin-binding site with two calponin homology domains to crosslink actin filaments (F-actin) in a Ca(2+)-sensitive manner in vitro. An inherited, late-onset form of kidney failure is caused by point mutations in the alpha-actinin-4 actin-binding domain. Here we show that alpha-actinin-4/F-actin aggregates, observed in vivo in podocytes of humans and mice with disease, likely form as a direct result of the increased actin-binding affinity of the protein. We document that exposure of a buried actin-binding site 1 in mutant alpha-actinin-4 causes an increase in its actin-binding affinity, abolishes its Ca(2+) regulation in vitro, and diverts its normal localization from actin stress fibers and focal adhesions in vivo. Inactivation of this buried actin-binding site returns the affinity of the mutant to that of the WT protein and abolishes aggregate formation in cells. In vitro, actin filaments crosslinked by the mutant alpha-actinin-4 exhibit profound changes of structural and biomechanical properties compared with WT alpha-actinin-4. On a molecular level, our findings elucidate the physiological importance of a dynamic interaction of alpha-actinin with F-actin in podocytes in vivo. We propose that a conformational change with full exposure of actin-binding site 1 could function as a switch mechanism to regulate the actin-binding affinity of alpha-actinin and possibly other calponin homology domain proteins under physiological conditions.

Publication types

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

MeSH terms

  • Actinin / chemistry
  • Actinin / genetics*
  • Actinin / metabolism*
  • Actinin / ultrastructure
  • Actins / metabolism*
  • Actins / ultrastructure
  • Amino Acid Substitution
  • Animals
  • Binding Sites / genetics
  • Cells, Cultured
  • Glomerulosclerosis, Focal Segmental / genetics
  • Glomerulosclerosis, Focal Segmental / metabolism
  • Humans
  • In Vitro Techniques
  • Kinetics
  • Mice
  • Mice, Knockout
  • Mice, Mutant Strains
  • Microfilament Proteins / chemistry
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / metabolism*
  • Microfilament Proteins / ultrastructure
  • Microscopy, Electron, Transmission
  • Models, Biological
  • Models, Molecular
  • Mutagenesis, Site-Directed
  • Mutation
  • Protein Binding
  • Protein Structure, Tertiary
  • Recombinant Fusion Proteins / chemistry
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Recombinant Fusion Proteins / ultrastructure

Substances

  • ACTN4 protein, human
  • Actins
  • Actn4 protein, mouse
  • Microfilament Proteins
  • Recombinant Fusion Proteins
  • Actinin