Down Syndrome and Malignancies: A Unique Clinical Relationship

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Down Syndrome and Malignancies: A Unique Clinical Relationship Ana C. Xavier, Yubin Ge, Jeffrey W. Taub The Journal of Molecular Diagnostics Volume 11, Issue 5, Pages 371-380 (September 2009) DOI: 10.2353/jmoldx.2009.080132 Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Schematics illustrating the role of GATA1 mutations in leukemogenesis in DS. The transcription factor gene GATA1 is localized to chromosome Xp11.23. GATA1 encodes a protein (50 kDa) that contains two C4-type zinc fingers, which act in DNA binding and protein-protein interactions, and an N-terminal transcription activation domain. The C-terminal zinc finger binds DNA at the consensus sequence (A/T) GATA (A/G). The N-terminal zinc finger can bind the consensus site GATC and also interacts with the partner protein “friend of GATA1.” This process is essential for normal erythroid and megakaryocytic differentiation. Mutations occurring in exon 2 of the transcription factor gene GATA1 result in the synthesis of a shorter GATA1 protein (40 kDa). The short form of the GATA1 protein (GATA1s) shows similar DNA-binding abilities and interactions with “friend of GATA1”; however, GATA1s exhibits altered transactivation capacity due to the loss of the N-terminal activation domain. The GATA1 mutation is likely an essential factor linked to leukemogenesis in DS; however, it is still not clear if this role is due to the loss of function of the wild-type GATA1 protein or if GATA1s has a unique function in the leukemia progression. The Journal of Molecular Diagnostics 2009 11, 371-380DOI: (10.2353/jmoldx.2009.080132) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions