Human phenotypes associated with GATA-1 mutations

Wendy A. Ciovacco, Wendy H. Raskind, Melissa Kacena

Research output: Contribution to journalArticle

67 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalGene
Volume427
Issue number1-2
DOIs
StatePublished - Dec 31 2008

Fingerprint

Phenotype
Mutation
Erythropoietic Porphyria
Transcription Factors
Myeloproliferative Disorders
Thalassemia
Hematopoiesis
Genetic Association Studies
Cell Lineage
Human Genome
Down Syndrome
Genes
Anemia
Blood Cells
Protein Isoforms
Leukemia
Homeostasis
Therapeutics
Proteins
Thrombocytopenia 1

Keywords

  • Acute megakaryoblastic leukemia
  • Congenital erythropoietic porphyria
  • GATA-1s
  • Gray platelet syndrome
  • Trisomy 21
  • X-linked thrombocytopenia
  • X-linked thrombocytopenia with thalassemia

ASJC Scopus subject areas

  • Genetics

Cite this

Human phenotypes associated with GATA-1 mutations. / Ciovacco, Wendy A.; Raskind, Wendy H.; Kacena, Melissa.

In: Gene, Vol. 427, No. 1-2, 31.12.2008, p. 1-6.

Research output: Contribution to journalArticle

Ciovacco, Wendy A. ; Raskind, Wendy H. ; Kacena, Melissa. / Human phenotypes associated with GATA-1 mutations. In: Gene. 2008 ; Vol. 427, No. 1-2. pp. 1-6.
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