A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Corinne Stoetzel; Séverine Bär; Johan-Owen De Craene; Sophie Scheidecker; Christelle Etard; Johana Chicher; Jennifer R. Reck; Isabelle Perrault; Véronique Geoffroy; Kirsley Chennen; Uwe Strähle; Philippe Hammann; Sylvie Friant; Hélène Dollfus

doi:10.1038/ncomms13586

Nature Communications (Nov 2016)

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Corinne Stoetzel,
Séverine Bär,
Johan-Owen De Craene,
Sophie Scheidecker,
Christelle Etard,
Johana Chicher,
Jennifer R. Reck,
Isabelle Perrault,
Véronique Geoffroy,
Kirsley Chennen,
Uwe Strähle,
Philippe Hammann,
Sylvie Friant,
Hélène Dollfus

Affiliations

Corinne Stoetzel: Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, University of Strasbourg, Strasbourg Medical School
Séverine Bär: Department of Molecular and Cellular Genetics, UMR7156, Centre National de Recherche Scientifique (CNRS), Université de Strasbourg
Johan-Owen De Craene: Department of Molecular and Cellular Genetics, UMR7156, Centre National de Recherche Scientifique (CNRS), Université de Strasbourg
Sophie Scheidecker: Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, University of Strasbourg, Strasbourg Medical School
Christelle Etard: Institut für Toxikologie und Genetik, Campus Nord, Karlsruher Institut für Technologie
Johana Chicher: Institut de Biologie Moléculaire et Cellulaire (IBMC), Plateforme Protéomique Strasbourg—Esplanade, CNRS FRC1589
Jennifer R. Reck: Department of Molecular and Cellular Genetics, UMR7156, Centre National de Recherche Scientifique (CNRS), Université de Strasbourg
Isabelle Perrault: Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker
Véronique Geoffroy: Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, University of Strasbourg, Strasbourg Medical School
Kirsley Chennen: Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, University of Strasbourg, Strasbourg Medical School
Uwe Strähle: Institut für Toxikologie und Genetik, Campus Nord, Karlsruher Institut für Technologie
Philippe Hammann: Institut de Biologie Moléculaire et Cellulaire (IBMC), Plateforme Protéomique Strasbourg—Esplanade, CNRS FRC1589
Sylvie Friant: Department of Molecular and Cellular Genetics, UMR7156, Centre National de Recherche Scientifique (CNRS), Université de Strasbourg
Hélène Dollfus: Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, University of Strasbourg, Strasbourg Medical School

DOI: https://doi.org/10.1038/ncomms13586
Journal volume & issue: Vol. 7, no. 1
pp. 1 – 13

Abstract

Read online

VPS15 is known as a VPS34-associated protein that functions in intracellular trafficking and autophagy. Here the authors identify a role for VPS15 in ciliopathy and ciliary phenotypes, and show that it interacts with GM130 and functions in IFT20-dependent cis-Golgi to cilium trafficking.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

About the journal