Matinspector (www.genomatix.de) analysis identified a number of potential ocular transcription factor-binding sites in this region (Fig. 5A), including adjacent predicted binding sites for PAX6 (chr14:g.22005800–22005818) and PAX2 (chr14:g.22005773–22005801), two transcription factors implicated in human coloboma pathology, located ∼430–460 bp upstream of the start of transcription of SALL2 (Fig. 5A). The gene discussed is PAX6; the disease is coloboma.