Androgen receptor acetylation site mutations cause trafficking defects, misfolding, and aggregation similar to expanded glutamine tracts

J Biol Chem. 2004 Feb 27;279(9):8389-95. doi: 10.1074/jbc.M311761200. Epub 2003 Dec 11.

Abstract

Kennedy's disease is a degenerative disorder of motor neurons caused by the expansion of a glutamine tract near the amino terminus of the androgen receptor (AR). Ligand binding to the receptor is associated with several post-translational modifications, but it is poorly understood whether these affect the toxicity of the mutant protein. Our studies now demonstrate that mutation of lysine residues in wild-type AR that are normally acetylated in a ligand-dependent manner mimics the effects of the expanded glutamine tract on receptor trafficking, misfolding, and aggregation. Mutation of lysines 630 or 632 and 633 to alanine markedly delays ligand-dependent nuclear translocation. The K632A/K633A mutant also undergoes ligand-dependent misfolding and aggregation similar to the expanded glutamine tract AR. This acetylation site mutant exhibits ligand-dependent 1C2 immunoreactivity, forms aggregates that co-localize with Hsp40, Hsp70, and the ubiquitin-protein isopeptide ligase (E3) ubiquitin ligase carboxyl terminus of Hsc70-interacting protein (CHIP), and inhibits proteasome function. Ligand-dependent nuclear translocation of the wild-type receptor and misfolding and aggregation of the K632A/K633A mutant are blocked by radicicol, an Hsp90 inhibitor. These data identify a novel role for the acetylation site as a regulator of androgen receptor subcellular distribution and folding and indicate that ligand-dependent aggregation is dependent upon intact Hsp90 function.

Publication types

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

MeSH terms

  • Acetylation
  • Binding Sites / genetics
  • Biological Transport
  • Cell Nucleus / metabolism
  • Fluorescent Antibody Technique, Indirect
  • Gene Expression
  • Glutamine*
  • Green Fluorescent Proteins
  • HSP90 Heat-Shock Proteins / metabolism
  • HeLa Cells
  • Humans
  • Lactones / pharmacology
  • Luminescent Proteins / genetics
  • Lysine / genetics
  • Macrolides
  • Mutation*
  • Point Mutation
  • Protein Folding*
  • Receptors, Androgen / chemistry*
  • Receptors, Androgen / genetics
  • Receptors, Androgen / metabolism*
  • Structure-Activity Relationship
  • Transfection

Substances

  • HSP90 Heat-Shock Proteins
  • Lactones
  • Luminescent Proteins
  • Macrolides
  • Receptors, Androgen
  • Glutamine
  • Green Fluorescent Proteins
  • monorden
  • Lysine