Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary ‘RAB3GAP’ complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-a...

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Published inOpen biology Vol. 5; no. 6; p. 150047
Main Authors Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.
Format Journal Article
LanguageEnglish
Published England The Royal Society 01.06.2015
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Abstract RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary ‘RAB3GAP’ complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-activating (GAP) activity in vitro. Here, we show that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered. In cell lines where TBC1D20 is absent from the endoplasmic reticulum (ER), RAB18 becomes more stably ER-associated and less cytosolic than in control cells. These data suggest that RAB18 is a physiological substrate of TBC1D20 and contribute to a model in which a Rab-GAP can be essential for the activity of a target Rab. Together with previous reports, this indicates that Warburg Micro syndrome can be caused directly by loss of RAB18, or indirectly through loss of RAB18 regulators RAB3GAP or TBC1D20.
AbstractList RAB18 , RAB3GAP1 , RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary ‘RAB3GAP’ complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-activating (GAP) activity in vitro . Here, we show that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered. In cell lines where TBC1D20 is absent from the endoplasmic reticulum (ER), RAB18 becomes more stably ER-associated and less cytosolic than in control cells. These data suggest that RAB18 is a physiological substrate of TBC1D20 and contribute to a model in which a Rab-GAP can be essential for the activity of a target Rab. Together with previous reports, this indicates that Warburg Micro syndrome can be caused directly by loss of RAB18, or indirectly through loss of RAB18 regulators RAB3GAP or TBC1D20.
RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary ‘RAB3GAP’ complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-activating (GAP) activity in vitro. Here, we show that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered. In cell lines where TBC1D20 is absent from the endoplasmic reticulum (ER), RAB18 becomes more stably ER-associated and less cytosolic than in control cells. These data suggest that RAB18 is a physiological substrate of TBC1D20 and contribute to a model in which a Rab-GAP can be essential for the activity of a target Rab. Together with previous reports, this indicates that Warburg Micro syndrome can be caused directly by loss of RAB18, or indirectly through loss of RAB18 regulators RAB3GAP or TBC1D20.
Author Jackson, Ian J.
Aligianis, Irene A.
Handley, Mark T.
Sidjanin, Duska J.
Carpanini, Sarah M.
Mali, Girish R.
FitzPatrick, David R.
AuthorAffiliation 1 MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh , Edinburgh EH4 2XU , UK
2 Division of Neurobiology , The Roslin Institute and R(D)SVS, University of Edinburgh , Easter Bush, Midlothian EH25 9RG , UK
3 Department of Cell Biology, Neurobiology, and Anatomy , Medical College of Wisconsin , Milwaukee, WI 53226 , USA
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Keywords RAB18
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Rab
Ras
GAP
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Snippet RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a...
RAB18 , RAB3GAP1 , RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form...
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SubjectTerms Abnormalities, Multiple - etiology
Abnormalities, Multiple - metabolism
Abnormalities, Multiple - pathology
Animals
Blotting, Western
Case-Control Studies
Cataract - congenital
Cataract - etiology
Cataract - metabolism
Cataract - pathology
Cells, Cultured
Cornea - abnormalities
Cornea - metabolism
Cornea - pathology
Cytosol - metabolism
Endoplasmic Reticulum - metabolism
Fibroblasts - metabolism
Fibroblasts - pathology
Flow Cytometry
Fluorescent Antibody Technique
Gap
Gef
Gene Expression Regulation
Guanosine Triphosphate - metabolism
HeLa Cells
Humans
Hydrolysis
Hypogonadism - etiology
Hypogonadism - metabolism
Hypogonadism - pathology
Intellectual Disability - etiology
Intellectual Disability - metabolism
Intellectual Disability - pathology
Mice
Mice, Knockout
Microcephaly - etiology
Microcephaly - metabolism
Microcephaly - pathology
Optic Atrophy - etiology
Optic Atrophy - metabolism
Optic Atrophy - pathology
Rab
rab GTP-Binding Proteins - genetics
rab GTP-Binding Proteins - metabolism
rab1 GTP-Binding Proteins - genetics
rab1 GTP-Binding Proteins - metabolism
Rab18
rab3 GTP-Binding Proteins - genetics
rab3 GTP-Binding Proteins - metabolism
Ras
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger - genetics
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Title Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
URI https://royalsocietypublishing.org/doi/full/10.1098/rsob.150047
https://www.ncbi.nlm.nih.gov/pubmed/26063829
https://search.proquest.com/docview/1687996760
https://pubmed.ncbi.nlm.nih.gov/PMC4632505
https://doaj.org/article/70f04e8094bd472597d59ede43ca466b
Volume 5
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