Article
A mutation in the translation initiation codon of Gata-1 disrupts megakaryocyte maturation and causes thrombocytopenia.
Proceedings of the National Academy of Sciences of the United States of America - 19 Sept 2006
Majewski Ian J, Metcalf Donald, Mielke Lisa A, Krebs Danielle L, Ellis Sarah, Carpinelli Marina R, Mifsud Sandra, Di Rago Ladina, Corbin Jason, Nicola Nicos A, Hilton Douglas J, Alexander Warren S
Abstract excerpt
We have generated mice from a N-ethyl-N-nitrosourea mutagenesis screen that carry a mutation in the translation initiation codon of Gata-1, termed Plt13, which is equivalent to mutations found in patients with acute megakaryoblastic leukemia and Down syndrome. The Gata-1 locus is present on the X chromosome in humans and in mice. Male mice hemizygous for the mutation (Gata-1Plt13/Y) failed to produce red blood...
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