Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond

Xiaoyu Tian; Huijie Zhao; Jun Zhou

doi:10.7554/eLife.87623

Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond

Elife. 2023 Jul 19:12:e87623. doi: 10.7554/eLife.87623.

Authors

Xiaoyu Tian^#¹, Huijie Zhao^#¹, Jun Zhou^{1

2}

Affiliations

¹ Center for Cell Structure and Function, Shandong Provincial Key Laboratory of Animal Resistance Biology, Collaborative Innovation Center of Cell Biology in Universities of Shandong, College of Life Sciences, Shandong Normal University, Jinan, China.
² State Key Laboratory of Medicinal Chemical Biology, Haihe Laboratory of Cell Ecosystem, College of Life Sciences, Nankai University, Tianjin, China.

^# Contributed equally.

Abstract

The BBSome is an octameric protein complex that regulates ciliary transport and signaling. Mutations in BBSome subunits are closely associated with ciliary defects and lead to ciliopathies, notably Bardet-Biedl syndrome. Over the past few years, there has been significant progress in elucidating the molecular organization and functions of the BBSome complex. An improved understanding of BBSome-mediated biological events and molecular mechanisms is expected to help advance the development of diagnostic and therapeutic approaches for BBSome-related diseases. Here, we review the current literature on the structural assembly, transport regulation, and molecular functions of the BBSome, emphasizing its roles in cilium-related processes. We also provide perspectives on the pathological role of the BBSome in ciliopathies as well as how these can be exploited for therapeutic benefit.

Keywords: BBSome; Cilia; cell biology; ciliopathy; cytoskeleton.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Bardet-Biedl Syndrome* / genetics
Bardet-Biedl Syndrome* / metabolism
Cilia / metabolism
Ciliopathies* / genetics
Ciliopathies* / metabolism
Humans

Grants and funding

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