SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

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Serval ID
serval:BIB_84330F8B510F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
Journal
Brain
Author(s)
Stendel Claudia, Roos Andreas, Kleine Henning, Arnaud Estelle, Oezcelik Murat, Sidiropoulos Paris N. M., Zenker Jennifer, Schuepfer Fanny, Lehmann Ute, Sobota Radoslaw M., Litchfield David W., Luescher Bernhard, Chrast Roman, Suter Ueli, Senderek Jan
ISSN
0006-8950
Publication state
Published
Issued date
2010
Peer-reviewed
Oui
Volume
133
Number
8
Pages
2462-2474
Language
english
Abstract
Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination. SH3TC2 expression is restricted to Schwann cells in the peripheral nervous system, and the gene product, SH3TC2, localizes to the perinuclear recycling compartment. Here, we show that SH3TC2 interacts with the small guanosine triphosphatase Rab11, which is known to regulate the recycling of internalized membranes and receptors back to the cell surface. Results of protein binding studies and transferrin receptor trafficking are in line with a role of SH3TC2 as a Rab11 effector molecule. Consistent with a function of Rab11 in Schwann cell myelination, SH3TC2 mutations that cause neuropathy disrupt the SH3TC2/Rab11 interaction, and forced expression of dominant negative Rab11 strongly impairs myelin formation in vitro. Our data indicate that the SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination.
Keywords
SH3TC2 / KIAA1985, Rab11, recycling endosome, Schwann cell myelination, Charcot-Marie-Tooth neuropathy, CELL-AXON INTERACTION, CHROMOSOME 5Q23-Q33, EPITHELIAL-CELLS, BINDING-PROTEIN, HELA-CELLS, DISEASE, DOMAIN, MUTATIONS, RAB11, MEMBRANE
Web of science
Open Access
Yes
Create date
08/09/2010 16:44
Last modification date
25/09/2019 7:09
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