Journal
SEMINARS IN THROMBOSIS AND HEMOSTASIS
Volume 37, Issue 6, Pages 682-689Publisher
THIEME MEDICAL PUBL INC
DOI: 10.1055/s-0031-1291378
Keywords
GATA-1; Friend of GATA; Trisomy 21; thrombocytopenia; megakaryocytes
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Funding
- Indiana Clinical and Translational Sciences Institute
- NIH [RR025760, RR025761, NIAMS R03 AR055269]
- Indiana University School of Medicine
- Department of Orthopaedic Surgery, Indiana University School of Medicine
- Northwest Institute of Genetic Medicine
- University of Washington Institute of Translational Health Sciences
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The GATA family of transcription factors, including the founding member, GATA-1, have an important role in gene regulation. GATA-1 is integral to successful hematopoiesis. A wide variety of mutations in GATA-1 affect its function, as well as its interaction with its cofactors (especially Friend of GATA) and the genes upon which GATA-1 acts. Here we review the known mutations, focusing on the specific alterations within the amino acid sequence, the resulting effect on hematopoietic development, and the clinical manifestations that result. Attention is also paid to the relationship between Trisomy 21, also known as Down syndrome, and the phenomenon of a truncated GATA-1, named GATA-1s. The evidence for specific interaction between GATA-1 and chromosome 21, which may explain the correlation between these two mutations, is briefly reviewed.
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