RGD Reference Report - INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. - Rat Genome Database

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INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.

Authors: Jacoby, Monique  Cox, James J  Gayral, Stéphanie  Hampshire, Daniel J  Ayub, Mohammed  Blockmans, Marianne  Pernot, Eileen  Kisseleva, Marina V  Compère, Philippe  Schiffmann, Serge N  Gergely, Fanni  Riley, John H  Pérez-Morga, David  Woods, C Geoffrey  Schurmans, Stéphane 
Citation: Jacoby M, etal., Nat Genet. 2009 Sep;41(9):1027-31. doi: 10.1038/ng.427. Epub 2009 Aug 9.
RGD ID: 12911209
Pubmed: PMID:19668215   (View Abstract at PubMed)
DOI: DOI:10.1038/ng.427   (Journal Full-text)

The primary cilium is an antenna-like structure that protrudes from the cell surface of quiescent/differentiated cells and participates in extracellular signal processing. Here, we report that mice deficient for the lipid 5-phosphatase Inpp5e develop a multiorgan disorder associated with structural defects of the primary cilium. In ciliated mouse embryonic fibroblasts, Inpp5e is concentrated in the axoneme of the primary cilium. Inpp5e inactivation did not impair ciliary assembly but altered the stability of pre-established cilia after serum addition. Blocking phosphoinositide 3-kinase (PI3K) activity or ciliary platelet-derived growth factor receptor alpha (PDGFRalpha) restored ciliary stability. In human INPP5E, we identified a mutation affecting INPP5E ciliary localization and cilium stability in a family with MORM syndrome, a condition related to Bardet-Biedl syndrome. Together, our results show that INPP5E plays an essential role in the primary cilium by controlling ciliary growth factor and PI3K signaling and stability, and highlight the consequences of INPP5E dysfunction.



Disease Annotations    
MORM Syndrome  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Inpp5e  (inositol polyphosphate-5-phosphatase E)

Genes (Mus musculus)
Inpp5e  (inositol polyphosphate-5-phosphatase E)

Genes (Homo sapiens)
INPP5E  (inositol polyphosphate-5-phosphatase E)


Additional Information