Relevance to Autism

Dvl1-deficient mice have previously been shown to demonstrate abnormal social behavior (Lijam et al., 1997; Long et al., 2004). More recently, a Dvl1/Dvl3+/ mouse model was shown to display adult social and repetitive behavioral abnormalities associated with transient embryonic brain enlargement during deep layer cortical neuron formation, phenotypes which could be rescued by pharmacological activation of the canonical Wnt pathway (Belinson et al., 2016).

Molecular Function

DVL1, the human homolog of the Drosophila dishevelled gene (dsh), encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. The encoded protein participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. There is evidence that heterozygous mutations in DVL1 are responsible for autosomal dominant Robinow syndrome-2 (DRS2; OMIM 616331).

External Links

References