Homology model of the human paired box protein PAX6 bound to DNA. Interaction of PAX6 with DNA and localization of missense
disease-causing mutations within the protein–DNA complex. The protein and DNA molecules are shown using cartoon representation.
Residues with observed mutations in patients are shown using sphere representation. The color coding is atom specific. Red,
blue, and light blue correspond to oxygen, nitrogen, and carbon atoms, respectively. The long flexible linker between the
RED and homeodomain (HD) domains [54
] was not included in the model. Binding of the bZIP domain transcription factor (e.g., c-Maf) and TBP in the vicinity of
PAX6, e.g., identified in αA- and αB-crystallin promoters [40
], is also shown.