Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2

Mol Cell. 2023 Oct 19;83(20):3692-3706.e5. doi: 10.1016/j.molcel.2023.09.024. Epub 2023 Oct 12.

Abstract

The senataxin (SETX, Sen1 in yeasts) RNA-DNA hybrid resolving helicase regulates multiple nuclear transactions, including DNA replication, transcription, and DNA repair, but the molecular basis for Sen1 activities is ill defined. Here, Sen1 cryoelectron microscopy (cryo-EM) reconstructions reveal an elongated inchworm-like architecture. Sen1 is composed of an amino terminal helical repeat Sen1 N-terminal (Sen1N) regulatory domain that is flexibly linked to its C-terminal SF1B helicase motor core (Sen1Hel) via an intrinsically disordered tether. In an autoinhibited state, the Sen1Sen1N domain regulates substrate engagement by promoting occlusion of the RNA substrate-binding cleft. The X-ray structure of an activated Sen1Hel engaging single-stranded RNA and ADP-SO4 shows that the enzyme encircles RNA and implicates a single-nucleotide power stroke in the Sen1 RNA translocation mechanism. Together, our data unveil dynamic protein-protein and protein-RNA interfaces underpinning helicase regulation and inactivation of human SETX activity by RNA-binding-deficient mutants in ataxia with oculomotor apraxia 2 neurodegenerative disease.

Keywords: DNA repair; Helicase; R-loop; RNA-DNA hybrid; SETX; SF1B; Sen1; X-ray crystallography; cryo-EM; senataxin; transcription.

Publication types

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

MeSH terms

  • Cryoelectron Microscopy
  • DNA / genetics
  • DNA Helicases / genetics
  • Homeostasis
  • Humans
  • Multifunctional Enzymes / genetics
  • Neurodegenerative Diseases*
  • RNA Helicases / chemistry
  • RNA Helicases / genetics
  • RNA* / genetics

Substances

  • RNA
  • RNA Helicases
  • Multifunctional Enzymes
  • DNA
  • SETX protein, human
  • DNA Helicases