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. Author manuscript; available in PMC: 2021 Jan 1.
Published in final edited form as: IUBMB Life. 2019 Oct 25;72(1):106–118. doi: 10.1002/iub.2177

Figure 1. Schematic of the GATA1 gene and known mutations in patients with congenital erythroid disorders.

Figure 1.

GATA1 is composed of six exons which encode two transcripts that produce the full-length isoform (upper) or the N-terminally truncated GATA1s isoform (lower). The locations of GATA1 mutations found in patients with congenital erythroid disorders are indicated along GATA1 gene. Mutations at the boundaries of exon 2 (green), mutations within the sequences that encode the N-terminal zinc finger (purple), and those within intron 5 (red) are depicted. The mutations at the boundaries of exon 2 cause splicing defects that result in the exclusive generation of GATA1s, while mutations within exon 4 create variants that attenuate the GATA1-FOG1 interaction or impair DNA binding. The g.7230C>T alteration causes a five-amino acid (PPFWQ) insertion at the C-terminus of the C-terminal zinc finger. GATA1 cofactors and their interacting domains are shown on top. N-TAD, amino-terminal trans-activation domain; N-ZF, amino-terminal zinc finger; C-ZF, carboxyl-terminal zinc finger.