RGD Reference Report - Tuberous sclerosis complex proteins control axon formation. - Rat Genome Database

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Tuberous sclerosis complex proteins control axon formation.

Authors: Choi, YJ  Di Nardo, A  Kramvis, I  Meikle, L  Kwiatkowski, DJ  Sahin, M  He, X 
Citation: Choi YJ, etal., Genes Dev. 2008 Sep 15;22(18):2485-95. doi: 10.1101/gad.1685008.
RGD ID: 11568688
Pubmed: PMID:18794346   (View Abstract at PubMed)
PMCID: PMC2546692   (View Article at PubMed Central)
DOI: DOI:10.1101/gad.1685008   (Journal Full-text)

Axon formation is fundamental for brain development and function. TSC1 and TSC2 are two genes, mutations in which cause tuberous sclerosis complex (TSC), a disease characterized by tumor predisposition and neurological abnormalities including epilepsy, mental retardation, and autism. Here we show that Tsc1 and Tsc2 have critical functions in mammalian axon formation and growth. Overexpression of Tsc1/Tsc2 suppresses axon formation, whereas a lack of Tsc1 or Tsc2 function induces ectopic axons in vitro and in the mouse brain. Tsc2 is phosphorylated and inhibited in the axon but not dendrites. Inactivation of Tsc1/Tsc2 promotes axonal growth, at least in part, via up-regulation of neuronal polarity SAD kinase, which is also elevated in cortical tubers of a TSC patient. Our results reveal key roles of TSC1/TSC2 in neuronal polarity, suggest a common pathway regulating polarization/growth in neurons and cell size in other tissues, and have implications for the understanding of the pathogenesis of TSC and associated neurological disorders and for axonal regeneration.

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
negative regulation of axonogenesis  IMP 11568688 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tsc2  (TSC complex subunit 2)


Additional Information