Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

Roly Megaw; Hashem Abu-Arafeh; Melissa Jungnickel; Carla Mellough; Christine Gurniak; Walter Witke; Wei Zhang; Hemant Khanna; Pleasantine Mill; Baljean Dhillon; Alan F. Wright; Majlinda Lako; Charles ffrench-Constant

doi:10.1038/s41467-017-00111-8

Nature Communications (Aug 2017)

Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

Roly Megaw,
Hashem Abu-Arafeh,
Melissa Jungnickel,
Carla Mellough,
Christine Gurniak,
Walter Witke,
Wei Zhang,
Hemant Khanna,
Pleasantine Mill,
Baljean Dhillon,
Alan F. Wright,
Majlinda Lako,
Charles ffrench-Constant

Affiliations

Roly Megaw: MRC Centre for Regenerative Medicine, University of Edinburgh
Hashem Abu-Arafeh: MRC Centre for Regenerative Medicine, University of Edinburgh
Melissa Jungnickel: MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh
Carla Mellough: Institute of Genetic Medicine, Newcastle University
Christine Gurniak: Institute fur Genetik, Universitat Bonn
Walter Witke: Institute fur Genetik, Universitat Bonn
Wei Zhang: Department of Ophthalmology, UMASS Medical School
Hemant Khanna: Department of Ophthalmology, UMASS Medical School
Pleasantine Mill: MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh
Baljean Dhillon: Centre for Clinical Brain Sciences, University of Edinburgh
Alan F. Wright: MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh
Majlinda Lako: Institute of Genetic Medicine, Newcastle University
Charles ffrench-Constant: MRC Centre for Regenerative Medicine, University of Edinburgh

DOI: https://doi.org/10.1038/s41467-017-00111-8
Journal volume & issue: Vol. 8, no. 1
pp. 1 – 10

Abstract

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Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause retinal dystrophy, but how this arises at a molecular level is unclear. Here, the authors show in induced pluripotent stem cells and mouse knockouts that RPGR mediates actin dynamics in photoreceptors via the actin-severing protein, gelsolin.

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/

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