导致RUNX1及其转录因子伙伴基因SIN3A和TCF12在骨髓疾病中同时下调的t(15;21)易位。
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.
作者信息
L'Abbate Alberto, Tolomeo Doron, De Astis Francesca, Lonoce Angelo, Lo Cunsolo Crocifissa, Mühlematter Dominique, Schoumans Jacqueline, Vandenberghe Peter, Van Hoof Achilles, Palumbo Orazio, Carella Massimo, Mazza Tommaso, Storlazzi Clelia Tiziana
机构信息
Department of Biology, University of Bari, Bari, Italy.
UO Anatomia Patologica, Ospedale S. Martino, Belluno, Italy.
出版信息
Mol Cancer. 2015 Dec 16;14:211. doi: 10.1186/s12943-015-0484-0.
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.
通过整合RNA测序、单核苷酸多态性阵列、荧光原位杂交和聚合酶链反应技术的联合方法，我们鉴定出两种导致RUNX1及其伙伴SIN3A和TCF12失活的新型t(15;21)易位。一种是复杂的t(15;21)(q24;q22)，两个断点均在核苷酸水平定位，在一名骨髓增生异常患者中使RUNX1与SIN3A和UBL7-AS1相连。另一种是复发性t(15;21)(q21;q22)，在三例髓系白血病病例中使RUNX1和TCF12并列，转录方向相反。由于我们的转录组分析表明大量差异表达基因与这两种易位相关，我们推测这些涉及RUNX1的改变具有重要的致病作用。
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