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Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins
Journal article   Open access   Peer reviewed

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins

Rachel D Starks, Andreas M Beyer, Deng Fu Guo, Lauren Boland, Qihong Zhang, Val C Sheffield and Kamal Rahmouni
PLoS genetics, Vol.11(6), pp.e1005311-e1005311
06/2015
DOI: 10.1371/journal.pgen.1005311
PMCID: PMC4478011
PMID: 26103456
url
https://doi.org/10.1371/journal.pgen.1005311View
Published (Version of record) Open Access

Abstract

Insulin and its receptor are critical for the regulation of metabolic functions, but the mechanisms underlying insulin receptor (IR) trafficking to the plasma membrane are not well understood. Here, we show that Bardet Biedl Syndrome (BBS) proteins are necessary for IR localization to the cell surface. We demonstrate that the IR interacts physically with BBS proteins, and reducing the expression of BBS proteins perturbs IR expression in the cell surface. We show the consequence of disrupting BBS proteins for whole body insulin action and glucose metabolism using mice lacking different BBS genes. These findings demonstrate the importance of BBS proteins in underlying IR cell surface expression. Our data identify defects in trafficking and localization of the IR as a novel mechanism accounting for the insulin resistance commonly associated with human BBS. This is supported by the reduced surface expression of the IR in fibroblasts derived from patients bearing the M390R mutation in the BBS1 gene.
Bardet-Biedl Syndrome - metabolism Microtubule-Associated Proteins - genetics Microtubule-Associated Proteins - metabolism Humans Mice, Inbred C57BL Cells, Cultured Cell Membrane - genetics Protein Transport Insulin - metabolism Animals HEK293 Cells Protein Binding Bardet-Biedl Syndrome - genetics Receptor, Insulin - metabolism Cell Membrane - metabolism Mice Mutation Fibroblasts - metabolism

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