t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.
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DOI：
10.1186/s12943-015-0484-0
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发表时间：
2015-12-16
期刊：
影响因子：
37.3
通讯作者：
Storlazzi CT
中科院分区：
文献类型：
--
作者：
L'Abbate A;Tolomeo D;De Astis F;Lonoce A;Lo Cunsolo C;Mühlematter D;Schoumans J;Vandenberghe P;Van Hoof A;Palumbo O;Carella M;Mazza T;Storlazzi CT
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. The online version of this article (doi:10.1186/s12943-015-0484-0) contains supplementary material, which is available to authorized users.
