Fig. 2.

Identification of a germline heterozygous GATA-2 mutation. a Heterozygous germline GATA-2 mutation was confirmed with the nail, BM-MSC, MonoMAC and MDS samples: GATA-2 c. 988 C > T, p. R330X. ZF, zinc finger. Numbering relative to adenine in the ATG start codon of GATA-2 (GenBank NM_001145661.1) and the first methionine (GenBank NP_116027.2) [3]. b Western blot analysis to detect wild-type and mutated GATA-2 in K562 cells. Actin was used as a loading control. GATA-2 R330X was detected by the anti-GATA-2 antibody (H-116), as it recognizes amino acid residues 120–235 of human GATA-2. Asterisk, cross-reactive band. c Quantitative ChIP analysis to examine GATA-2 occupancy in wild-type and mutated GATA-2-overexpressing K562 cells (n = 3, mean ± SD). NECDIN promoter was included as a negative control