Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21 by Liat Rainis, Dan Bercovich, Sabine Strehl, Andrea.

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Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21 by Liat Rainis, Dan Bercovich, Sabine Strehl, Andrea Teigler-Schlegel, Batia Stark, Jan Trka, Ninette Amariglio, Andrea Biondi, Inna Muler, Gideon Rechavi, Helena Kempski, Oskar A. Haas, and Shai Izraeli Blood Volume 102(3):981-986 August 1, 2003 ©2003 by American Society of Hematology

Characterization of mutations in GATA1. Characterization of mutations in GATA1. (A) DHPLC analysis of PCR products of GATA1 exon 2 from DS patients with TMD. The patients' numbers correspond to the numbers in Table 2. Aberrant chromatogram is seen in all patients. (B) The scatter of mutations in exon 2. Arrows indicate the positions of the different mutations found in the patients screened. Arrows placed above the bar represent insertions/deletions; arrows below the bar represent point mutations. Red arrows indicate DS AMKL patients; blue arrows, DS patients with congenital TMD; green arrows, AMKL with acquired trisomy 21. (C) Sequencing of RT-PCR fragments of GATA1 amplified from bone marrow cells of patient 19 at diagnosis and remission. The mutation 392delCC is clearly seen in the sample taken at diagnosis, but the sample taken at remission is normal. (D) Different types of mutations in exon2 of GATA1. Liat Rainis et al. Blood 2003;102:981-986 ©2003 by American Society of Hematology

Alternative splicing of GATA1. Alternative splicing of GATA1. (A) The sequence of the junction between exons 2 and intron 2 in 5 patients compared with wild-type sequence (first row). (B) RT-PCR analysis. M indicates marker. Lane 1: PCR-mix; lane 2: RT-mix (negative controls). Lanes 3-5: patients with splice mutations in GATA1 (patients 3, 57, and 61, respectively). Lane 6: patient 19 at diagnosis (no splice mutation); lane 7: normal bone marrow; lane 8: K562; lane 9: patient 68 (leukemia with no mutation in GATA1). The larger fragment (348 bp) corresponds to the normal splicing of exon 1 to 2 and then exon 2 to3. The smaller fragment (109 bp) corresponds to an alternative splice variant in which exon 1 is spliced to exon 3. (C) Alternative models for generation of GATA1 isoforms. The full GATA1 protein can only be translated from the full GATA1 mRNA, whereas the GATA1s protein can be translated either from the full GATA1 mRNA or from the shorter splice variant in which exon 2 is skipped. Liat Rainis et al. Blood 2003;102:981-986 ©2003 by American Society of Hematology