RGD Reference Report - Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly. - Rat Genome Database

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Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly.

Authors: Zhang, W  Kang, JS  Cole, F  Yi, MJ  Krauss, RS 
Citation: Zhang W, etal., Dev Cell. 2006 May;10(5):657-65. Epub 2006 Apr 27.
RGD ID: 8554425
Pubmed: PMID:16647303   (View Abstract at PubMed)
DOI: DOI:10.1016/j.devcel.2006.04.005   (Journal Full-text)

Holoprosencephaly (HPE), a common defect of human forebrain development, is associated with haploinsufficiency for genes encoding Sonic Hedgehog (SHH) pathway components. Clinical expression of HPE is extremely variable, but it is rarely associated with defects in other SHH-dependent structures, such as limbs. Here we report that mice lacking the transmembrane protein Cdo, previously implicated in myogenesis, display HPE with strain-specific severity and without limb defects, modeling human HPE and implicating modifier genes as a cause of variability. Shh target gene expression is reduced in the developing forebrains of Cdo-/- mice, and Cdo positively regulates Shh signaling in vitro. Our data suggest that Cdo enhances pathway activity in multiple ways, including at signal reception and via a parallel mechanism required at the level of Gli transcription factors. Specific Cdo domains required for its promyogenic effect are dispensable for its Shh signaling role, suggesting that Cdo has multiple, independent functions.

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
smoothened signaling pathway acts_upstream_of_or_withinIDA 8554425PMID:16647303MGI 

Objects Annotated

Genes (Rattus norvegicus)
Cdon  (cell adhesion associated, oncogene regulated)


Additional Information