Schematic representation of the PU.1 mutations found in AML patients.

PU.1 wild-type consists of 2 transactivation domains (TAD), a PEST domain, and a DNA-binding domain (DBD); the numbers refer to the location of the amino acids of the human PU.1 protein. Mutated sequences or frame shift sequences downstream of the mutation are depicted with hatched bars. The FAB subtypes are shown in the second column. 9P-10PinsQ represents a 3 base pair insertion splice variant found equally in healthy volunteers as well as in AML patients, which demonstrated no difference in DNA binding or transactivation compared to wild-type PU.1. fs indicates frame shift; X, new stop codon due to frame shift mutation; del, deleted sequences. ins: inserted sequences.