Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Basic Helix-Loop-Helix Transcription Factors / genetics*
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Basic Helix-Loop-Helix Transcription Factors / metabolism
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Core Binding Factor Alpha 2 Subunit / genetics*
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Core Binding Factor Alpha 2 Subunit / metabolism
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Down-Regulation
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Humans
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Leukemia, Myeloid / genetics*
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Repressor Proteins / genetics*
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Repressor Proteins / metabolism
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Sequence Analysis, DNA
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Sin3 Histone Deacetylase and Corepressor Complex
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Translocation, Genetic
Substances
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Basic Helix-Loop-Helix Transcription Factors
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Core Binding Factor Alpha 2 Subunit
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RUNX1 protein, human
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Repressor Proteins
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SIN3A transcription factor
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TCF12 protein, human
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Sin3 Histone Deacetylase and Corepressor Complex