High-Throughput Screening for Ligands of the HEPN Domain of Sacsin

PLoS One. 2015 Sep 14;10(9):e0137298. doi: 10.1371/journal.pone.0137298. eCollection 2015.

Abstract

Sacsin is a large protein implicated in the neurodevelopmental and neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which features the loss of Purkinje neurons in the cerebellum. Although the domain architecture of sacsin suggests that it is a neuronal chaperone assisting in protein quality control, the precise function of sacsin remains elusive. Using fluorescence polarization (FP) assays, we confirmed that the HEPN domain of sacsin binds to nucleotides with low micromolar affinities. FP competition assays with a variety of nucleotides and nucleotide analogs revealed that the binding is primarily mediated by the phosphate groups of nucleotides. A high-throughput screen subsequently identified novel small molecule ligands of HEPN, providing new chemical probes for cell culture studies and drug development. Together, the results are consistent with the HEPN domain contributing to the functional activity of sacsin by binding to nucleotides or other multiply charged anionic compounds in neurons.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Edetic Acid / chemistry
  • Fluorescence Polarization Immunoassay
  • Heat-Shock Proteins / chemistry*
  • High-Throughput Screening Assays
  • Humans
  • Ligands*
  • Magnesium / chemistry
  • Nucleotides / chemistry
  • Protein Structure, Tertiary

Substances

  • Heat-Shock Proteins
  • Ligands
  • Nucleotides
  • SACS protein, human
  • Edetic Acid
  • Magnesium

Grants and funding

XL is a recipient of a Bionanomachines NSERC CREATE scholarship. This research was supported by the Fondation de l'Ataxie de Charlevoix-Saguenay (www.arsacs.com), the Marcelle and Jean Coutu Foundation, and a Canadian Institutes of Health Research Emerging Team Grant on Rare Diseases (126526). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.