Relevance to Autism

A rare G>A mutation within the human accelerated region HAR426, for which existing ChIA-Pet data showed an interaction with the dosage-sensitive CUX1 promoter 200 kb distal, was homozygous in three individuals presenting with ASD and ID from two unrelated consanguineous families; functional analysis of this variant in luciferase reporter assays demonstrated that while HAR426 joined to the human CUX1 promoter showed strong enhancer activity (1.5-fold increase), the G>A variant boosted activity over 3-fold (Doan et al., 2016). In the same report, overexpression of CUX1 in cortical cultured neurons was shown to increase synaptic spine density and spine head area in an activity-dependent manner. CUX1 was found to bind to a transcriptional activator containing an ASD-associated intronic haplotype in the EN2 gene (Choi et al., 2012).

Molecular Function

The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession.

External Links

References