Abstract
The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Animals
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Brain / embryology
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Brain / metabolism
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Chromosomes, Human, Pair 5*
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Chromosomes, Human, Pair 8*
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Heart / embryology
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Heart Defects, Congenital / genetics*
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Humans
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Intellectual Disability / genetics*
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Male
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Mice
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Myocardium / metabolism
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Proto-Oncogene Proteins / genetics
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Proto-Oncogene Proteins / metabolism
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Proto-Oncogene Proteins / physiology*
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RUNX1 Translocation Partner 1 Protein
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Transcription Factors / genetics
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Transcription Factors / metabolism
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Transcription Factors / physiology*
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Translocation, Genetic*
Substances
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Proto-Oncogene Proteins
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RUNX1 Translocation Partner 1 Protein
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RUNX1T1 protein, human
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Transcription Factors