RGD Reference Report - The graded response to Sonic Hedgehog depends on cilia architecture. - Rat Genome Database

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The graded response to Sonic Hedgehog depends on cilia architecture.

Authors: Caspary, T  Larkins, CE  Anderson, KV 
Citation: Caspary T, etal., Dev Cell. 2007 May;12(5):767-78.
RGD ID: 11553935
Pubmed: PMID:17488627   (View Abstract at PubMed)
DOI: DOI:10.1016/j.devcel.2007.03.004   (Journal Full-text)

Several studies have linked cilia and Hedgehog signaling, but the precise roles of ciliary proteins in signal transduction remain enigmatic. Here we describe a mouse mutation, hennin (hnn), that causes coupled defects in cilia structure and Sonic hedgehog (Shh) signaling. The hnn mutant cilia are short with a specific defect in the structure of the ciliary axoneme, and the hnn neural tube shows a Shh-independent expansion of the domain of motor neuron progenitors. The hnn mutation is a null allele of Arl13b, a small GTPase of the Arf/Arl family, and the Arl13b protein is localized to cilia. Double mutant analysis indicates that Gli3 repressor activity is normal in hnn embryos, but Gli activators are constitutively active at low levels. Thus, normal structure of the ciliary axoneme is required for the cell to translate different levels of Shh ligand into differential regulation of the Gli transcription factors that implement Hedgehog signals.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
neural tube defect  ISOArl13b (Mus musculus)11553935; 11553935DNA:transversion:intron:IVS2+2T>G (mouse)RGD 
neural tube defect  IAGP 11553935DNA:transversion:intron:IVS2+2T>G (mouse)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Arl13b  (ADP-ribosylation factor like GTPase 13B)

Genes (Mus musculus)
Arl13b  (ADP-ribosylation factor-like 13B)

Genes (Homo sapiens)
ARL13B  (ADP ribosylation factor like GTPase 13B)


Additional Information