Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development
| Autor: | Litu Zhang, Zeynep Tümer, Niels Tommerup, Eske Bendsen, Nickolas Papadopoulos, Rikke S. Møller, Gotthold Barbi, Reinhard Ullmann, Lars Allan Larsen, Eva Rossier, Jian He, Kjeld Møllgård |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Heart Defects Congenital Male Heart disease Chromosomal translocation Biology Bioinformatics RUNX1T1 Gene Translocation Genetic Article Mice chemistry.chemical_compound RUNX1 Translocation Partner 1 Protein Intellectual Disability Proto-Oncogene Proteins hemic and lymphatic diseases Genetics medicine Animals Humans Genetics (clinical) Heart development Myocardium RUNX1T1 Brain Myeloid leukemia Heart medicine.disease RUNX1 chemistry Chromosomes Human Pair 5 Chromosomes Human Pair 8 Transcription Factors |
| Zdroj: | European Journal of Human Genetics. 17:1010-1018 |
| ISSN: | 1476-5438 1018-4813 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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