The human chd8 gene is transcribed from two distant upstream promoters.

Chromodomain-Helicase-DNA-binding protein 8 (CHD8) is a chromatin remodeler that is central to regulation of gene expression pathways during brain development. Many loss-of-function mutations in transcribed regions of the chd8 gene have been identified in autism spectrum disorder patients. Nothing is known about transcription of the human chd8 gene. Defects in expression of this gene could represent another mechanism leading to reduced amount of CHD8. We identify two major promoters for the human chd8 gene, both of which are located many thousand base pairs upstream of the coding region. Each proximal promoter directs a similar transcriptional efficiency in transfected cells. At least two elements within 200bp of the 5'flanking regions of these promoters are important to drive highest transcriptional levels in transient transfection experiments. RNA polymerase II occupancy levels at each promoter are roughly equivalent. Lastly, each promoter directs a dispersed set of start sites in a cultured cell line. This work could provide the framework for future studies to investigate the importance of chd8 gene expression for diseases associated with brain and neuronal development.

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