GATA1s goes germline

Acquired somatic mutations in the transcription factor GATA1 are a defining feature of acute megakaryocytic leukemia in children with Down syndrome. A new study shows that similar inherited GATA1 mutations do not promote leukemia in the absence of trisomy 21 but lead to defects in multiple hematopoi...

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Bibliographic Details
Published inNature genetics Vol. 38; no. 7; pp. 741 - 742
Main Authors Mundschau, Gina, Crispino, John
Format Journal Article
LanguageEnglish
Published United States Nature Publishing Group 01.07.2006
Subjects
Blood
DNA binding proteins
Down syndrome
Down Syndrome - complications
Down Syndrome - genetics
GATA1 Transcription Factor - genetics
Gene mutations
Genetic aspects
Genetics
Germ-Line Mutation
Hematopoiesis - genetics
Humans
Identification and classification
Leukemia
Leukemia, Megakaryoblastic, Acute - etiology
Leukemia, Megakaryoblastic, Acute - genetics
Models, Biological
Mutation
Physiological aspects
Protein Isoforms - genetics
United States
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Summary:Acquired somatic mutations in the transcription factor GATA1 are a defining feature of acute megakaryocytic leukemia in children with Down syndrome. A new study shows that similar inherited GATA1 mutations do not promote leukemia in the absence of trisomy 21 but lead to defects in multiple hematopoietic lineages.
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ISSN:1061-4036
1546-1718
DOI:10.1038/ng0706-741