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PMID:17488627

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Citation

Caspary, T, Larkins, CE and Anderson, KV (2007) The graded response to Sonic Hedgehog depends on cilia architecture. Dev. Cell 12:767-78

Abstract

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.

Links

PubMed Online version:10.1016/j.devcel.2007.03.004

Keywords

Alleles; Animals; Body Patterning; Cilia/metabolism; Cilia/ultrastructure; Cytoskeletal Proteins/metabolism; Embryo, Mammalian/abnormalities; Embryo, Mammalian/ultrastructure; Exons/genetics; Eye Abnormalities/embryology; Gene Expression Regulation, Developmental; Hedgehog Proteins/genetics; Hedgehog Proteins/metabolism; Introns/genetics; Ligands; Limb Deformities, Congenital/embryology; Mice; Mutation/genetics; Neural Tube Defects/embryology; Oncogene Proteins/metabolism; Phenotype; Protein Transport; Receptors, Cell Surface/metabolism; Receptors, G-Protein-Coupled/metabolism; Trans-Activators/metabolism

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:AR13B

located_in

GO:0005929: cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:AR13B

involved_in

GO:0060271: cilium assembly

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:AR13B

involved_in

GO:0007224: smoothened signaling pathway

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:AR13B

part_of

GO:0005929: cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete


See also

References

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