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Advances in the understanding of the BBSome complex structure and function

Authors Hernandez-Hernandez V, Jenkins D

Received 19 June 2015

Accepted for publication 27 August 2015

Published 15 October 2015 Volume 2015:6 Pages 191—201


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3

Editor who approved publication: Professor Zvi Kelman

Victor Hernandez-Hernandez, Dagan Jenkins

Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK

Abstract: Bardet–Biedl syndrome (BBS) is an autosomal recessive condition characterized by important clinical features, including obesity, blindness, renal cystic disease, and intellectual disability. BBS is caused by mutations in >20 genes, a subset of which form the so-called BBSome. The BBSome is a complex that coats intracellular vesicles and interacts with key proteins, such as small GTPases, that regulate the trafficking of these vesicles to the base of cilia. Cilia are microtubular protusions present on the surface of most cells that are defective in a key group of disorders known as ciliopathies, of which BBS is one. BBSome components particularly localize to the basal body of cilia, and also centrosomes, where they interact with pericentriolar material proteins that regulate their function. The BBSome also facilitates the transport of key cargo within cilia by acting as an adaptor protein for intraflagellar transport complexes, and as such BBS mutations lead to a variety of functional defects in cilia in a tissue- and cell-type-specific manner. This might include defects in photoreceptor trafficking linked to the connecting cilium, abnormal hedgehog signaling within bone, and aberrant calcium signaling in response to fluid flow along renal tubules, although the precise mechanisms are still not completely understood. Taken together, the BBSome is an important complex that may be targeted for treatment of a variety of common and important disorders, and understanding the precise function of the BBSome will be essential to capitalize on this translationally.

Keywords: retinitis pigmentosa GTPase regulator, polycystin, disrupted in schizophrenia 1, Hedgehog signaling, calcium signaling, photoreceptors

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