t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders
Copyright policy )t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders
Through a combined approach integrating RNA-Seq, SNP-array, FISH and PCR techniques, we identified two novel t(15;21) translocations leading to the inactivation of RUNX1 and its partners SIN3A and TCF12. One is a complex t(15;21)(q24;q22), with both breakpoints mapped at the nucleotide level, joining RUNX1 to SIN3A and UBL7-AS1 in a patient with myelodysplasia. The other is a recurrent t(15;21)(q21;q22), juxtaposing RUNX1 and TCF12, with an opposite transcriptional orientation, in three myeloid leukemia cases. Since our transcriptome analysis indicated a significant number of differentially expressed genes associated with both translocations, we speculate an important pathogenetic role for these alterations involving RUNX1.
- KU Leuven Belgium
- University of Bari Aldo Moro Italy
- Centre For Human Genetics India
- Centre Hospitalier Universtaire Vaudois CHUV Switzerland
- Casa Sollievo della Sofferenza Italy
Biochemistry & Molecular Biology, 3101 Biochemistry and cell biology, Cancer Research, Tumor suppressor genes, Down-Regulation, Haploinsufficiency, Translocation, Genetic, Haploinsufficiency; Tumor suppressor genes; AML; MDS, AML, 3211 Oncology and carcinogenesis, MDS, Basic Helix-Loop-Helix Transcription Factors, Humans, 1112 Oncology and Carcinogenesis, Tumor suppressor gene, ACUTE-LEUKEMIA, Oncology & Carcinogenesis, Letter to the Editor, Science & Technology, COMPLEX, Base Sequence, Sequence Analysis, DNA, CANCER, Repressor Proteins, Sin3 Histone Deacetylase and Corepressor Complex, Oncology, Leukemia, Myeloid, Core Binding Factor Alpha 2 Subunit, Molecular Medicine, Life Sciences & Biomedicine
Biochemistry & Molecular Biology, 3101 Biochemistry and cell biology, Cancer Research, Tumor suppressor genes, Down-Regulation, Haploinsufficiency, Translocation, Genetic, Haploinsufficiency; Tumor suppressor genes; AML; MDS, AML, 3211 Oncology and carcinogenesis, MDS, Basic Helix-Loop-Helix Transcription Factors, Humans, 1112 Oncology and Carcinogenesis, Tumor suppressor gene, ACUTE-LEUKEMIA, Oncology & Carcinogenesis, Letter to the Editor, Science & Technology, COMPLEX, Base Sequence, Sequence Analysis, DNA, CANCER, Repressor Proteins, Sin3 Histone Deacetylase and Corepressor Complex, Oncology, Leukemia, Myeloid, Core Binding Factor Alpha 2 Subunit, Molecular Medicine, Life Sciences & Biomedicine
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