Human phenotypes associated with GATA-1 mutations

GATA-1 is one of the six members of the GATA gene family, a group of related transcription factors discovered in the 1980s. In the past few decades, the crucial role of GATA-1 in normal human hematopoiesis has been delineated. As would be expected, mutations in GATA-1 have subsequently been found to...

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Bibliographic Details
Published in:Gene 2008-12, Vol.427 (1), p.1-6
Main Authors: Ciovacco, Wendy A., Raskind, Wendy H., Kacena, Melissa A.
Format: Article
Language:English
Subjects:
Acute megakaryoblastic leukemia
Cell Lineage
Congenital erythropoietic porphyria
Down Syndrome
GATA-1s
GATA1 Transcription Factor - genetics
Gene Expression Regulation
Genotype
Gray platelet syndrome
Humans
Leukemia, Megakaryoblastic, Acute - genetics
Mutation
Myeloproliferative Disorders - genetics
Phenotype
Porphyria, Erythropoietic - genetics
Thrombocytopenia - genetics
Trisomy 21
X-linked thrombocytopenia
X-linked thrombocytopenia with thalassemia
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Summary:GATA-1 is one of the six members of the GATA gene family, a group of related transcription factors discovered in the 1980s. In the past few decades, the crucial role of GATA-1 in normal human hematopoiesis has been delineated. As would be expected, mutations in GATA-1 have subsequently been found to have important clinical significance, and are directly linked to deregulated formation of certain blood cell lineages. This paper reviews the functional consequences of GATA-1 mutations by linking specific errors in the gene, or its downstream protein products, to documented human diseases. These five human diseases are: X-linked thrombocytopenia (XLT), X-linked thrombocytopenia with thalassemia (XLTT), congenital erythropoietic porphyria (CEP), transient myeloproliferative disorder (TMD) and acute megarakaryoblastic leukemia (AMKL) associated with Trisomy 21, and, lastly, a particular subtype of anemia associated with the production of GATA-1s, a shortened, mutant isoform of the wild-type GATA-1. The different phenotypic expressions associated with GATA-1 mutations illustrate the integral function of the transcription factor in overall body homeostasis. Furthermore, these direct genotype-phenotype correlations reinforce the importance of unraveling the human genome, as such connections may lead to important therapeutic or preventive therapies.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2008.09.018