The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment

The Journal of Biological Chemistry
Christin Hanke-GogokhiaWolfgang Baehr

Abstract

Arf-like protein 13b (ARL13b) is a small GTPase that functions as a guanosine nucleotide exchange factor (GEF) for ARL3-GDP. ARL13b is located exclusively in photoreceptor outer segments (OS) presumably anchored to discs by palmitoylation, whereas ARL3 is an inner segment cytoplasmic protein. Hypomorphic mutations affecting the ARL13b G-domain inactivate GEF activity and lead to Joubert syndrome (JS) in humans. However, the molecular mechanisms in ARL13b mutation-induced Joubert syndrome, particularly the function of primary cilia, are still incompletely understood. Because Arl13b germline knockouts in mouse are lethal, we generated retina-specific deletions of ARL13b in which ARL3-GTP formation is impaired. In mouse retArl13b-/- central retina at postnatal day 6 (P6) and older, outer segments were absent, thereby preventing trafficking of outer segment proteins to their destination. Ultrastructure of postnatal day 10 (P10) central retArl13b-/- photoreceptors revealed docking of basal bodies to cell membranes, but mature transition zones and disc structures were absent. Deletion of ARL13b in adult mice via tamoxifen-induced Cre/loxP recombination indicated that axonemes gradually shorten and outer segments progressively degener...Continue Reading

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Citations

Nov 20, 2019·Investigative Ophthalmology & Visual Science·Shakeel A SheikhZubair M Ahmed
Jun 22, 2019·Annual Review of Vision Science·Yoshikazu Imanishi
May 16, 2019·Molecular Biology of the Cell·Elizabeth SztulRichard A Kahn
Jun 11, 2020·American Journal of Physiology. Cell Physiology·Skylar FisherElizabeth Sztul
Feb 23, 2021·Frontiers in Cell and Developmental Biology·Cassandra L BarnesPeter D Calvert
Mar 9, 2021·Journal of Biochemistry·Taro Chaya, Takahisa Furukawa
Apr 22, 2021·Pflügers Archiv : European journal of physiology·Himanshu MalhotraPeter D Calvert

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