RGD Reference Report - The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons. - Rat Genome Database

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The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.

Authors: Ikeuchi, Y  De la Torre-Ubieta, L  Matsuda, T  Steen, H  Okazawa, H  Bonni, A 
Citation: Ikeuchi Y, etal., Cell Rep. 2013 Sep 12;4(5):879-89. doi: 10.1016/j.celrep.2013.07.042. Epub 2013 Aug 29.
RGD ID: 9685166
Pubmed: PMID:23994472   (View Abstract at PubMed)
PMCID: PMC4013279   (View Article at PubMed Central)
DOI: DOI:10.1016/j.celrep.2013.07.042   (Journal Full-text)

Intellectual disability (ID) is a prevalent developmental disorder of cognition that remains incurable. Here, we report that knockdown of the X-linked ID (XLID) protein polyglutamine-binding protein 1 (PQBP1) in neurons profoundly impairs the morphogenesis of the primary cilium, including in the mouse cerebral cortex in vivo. PQBP1 is localized at the base of the neuronal cilium, and targeting its WW effector domain to the cilium stimulates ciliary morphogenesis. We also find that PQBP1 interacts with Dynamin 2 and thereby inhibits its GTPase activity. Accordingly, Dynamin 2 knockdown in neurons stimulates ciliogenesis and suppresses the PQBP1 knockdown-induced ciliary phenotype. Strikingly, a mutation of the PQBP1 WW domain that causes XLID disrupts its ability to interact with and inhibit Dynamin 2 and to induce neuronal ciliogenesis. These findings define PQBP1 and Dynamin 2 as components of a signaling pathway that orchestrates neuronal ciliary morphogenesis in the brain.

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
negative regulation of non-motile cilium assembly  IMP 9685166 RGD 
positive regulation of non-motile cilium assembly  IMP 9685166 RGD 

Cellular Component
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
centrosome  IDA 9685166; 9685166 RGD 
ciliary base  IDA 9685166 RGD 

Molecular Function

Objects Annotated

Genes (Rattus norvegicus)
Dnm1  (dynamin 1)
Dnm2  (dynamin 2)
Dnm3  (dynamin 3)
Pqbp1  (polyglutamine binding protein 1)


Additional Information