Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation

Nat Commun. 2017 Nov 7;8(1):1350. doi: 10.1038/s41467-017-01367-w.

Abstract

Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerative disease caused by mutations in the cytoskeletal protein β-III-spectrin. Previously, a SCA5 mutation resulting in a leucine-to-proline substitution (L253P) in the actin-binding domain (ABD) was shown to cause a 1000-fold increase in actin-binding affinity. However, the structural basis for this increase is unknown. Here, we report a 6.9 Å cryo-EM structure of F-actin complexed with the L253P ABD. This structure, along with co-sedimentation and pulsed-EPR measurements, demonstrates that high-affinity binding caused by the CH2-localized mutation is due to opening of the two CH domains. This enables CH1 to bind actin aided by an unstructured N-terminal region that becomes α-helical upon binding. This helix is required for association with actin as truncation eliminates binding. Collectively, these results shed light on the mechanism by which β-III-spectrin, and likely similar actin-binding proteins, interact with actin, and how this mechanism can be perturbed to cause disease.

Publication types

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

MeSH terms

  • Actins / metabolism*
  • Binding Sites
  • Cryoelectron Microscopy
  • Electron Spin Resonance Spectroscopy
  • Humans
  • Models, Molecular
  • Mutation, Missense*
  • Protein Conformation
  • Protein Domains
  • Spectrin / chemistry*
  • Spectrin / genetics*
  • Spectrin / metabolism

Substances

  • Actins
  • SPTBN2 protein, human
  • Spectrin