Figure 4. Schematic illustration of genomic and cDNA DLX6 gene structure in unaffected (WT) and CP1 NSDTRs (CP1).

Nucleotides boxed and in bold are the 13 base pair target site duplication identified as part of the DLX6 LINE-1 insertion. Conservation represents the UCSC genome browser comparative genomics conservation track of human, dog, mouse, and rat sequence conservation. The region of conservation represented in red is the region disrupted by the LINE-1 insertion. Image is not drawn to scale.