Structure of the human BBSome core complex

Elife. 2020 Jan 17:9:e53910. doi: 10.7554/eLife.53910.

Abstract

The BBSome is a heterooctameric protein complex that plays a central role in primary cilia homeostasis. Its malfunction causes the severe ciliopathy Bardet-Biedl syndrome (BBS). The complex acts as a cargo adapter that recognizes signaling proteins such as GPCRs and links them to the intraflagellar transport machinery. The underlying mechanism is poorly understood. Here we present a high-resolution cryo-EM structure of a human heterohexameric core subcomplex of the BBSome. The structure reveals the architecture of the complex in atomic detail. It explains how the subunits interact with each other and how disease-causing mutations hamper this interaction. The complex adopts a conformation that is open for binding to membrane-associated GTPase Arl6 and a large positively charged patch likely strengthens the interaction with the membrane. A prominent negatively charged cleft at the center of the complex is likely involved in binding of positively charged signaling sequences of cargo proteins.

Keywords: Arl6; BBSome; GCPR; ciliary transport; cryo-EM; human; membrane; molecular biophysics; structural biology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ADP-Ribosylation Factors / chemistry
  • ADP-Ribosylation Factors / metabolism*
  • Bardet-Biedl Syndrome / metabolism*
  • Cilia / metabolism
  • Cryoelectron Microscopy
  • Humans
  • Models, Molecular
  • Protein Binding
  • Protein Conformation
  • Signal Transduction

Substances

  • ADP-Ribosylation Factors

Associated data

  • PDB/6XT9
  • PDB/6XTB

Grants and funding

The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication.