FIG. 6.

Mutations in the N-terminal finger of GATA1 causing human disease. The figure was prepared using the file 1GNF.pdb (51) and Swiss-pdb viewer software (http://www.expasy.org/spdbv/) (33). The 3D structure of A201 to P240 of human and mouse GATA1 is displayed as a ribbon (pink); the zinc atom is displayed as an orange sphere. The positions of the zinc-chelating Cys residues on the ribbon are indicated in yellow; the positions of residues involved in the interaction with FOG-1 are in blue (23). Side chains are shown for the residues mutated in patients. Blue, the mutations V205 M (75), G208S (64), D218G (25), and D218Y (26) interfere with FOG-1 binding; red, the mutation R216Q (133) interferes with DNA binding.