Washington University School of Medicine.
Blood. 2020 Aug 20;136(8):919-920. doi: 10.1182/blood.2020006607.
The molecular consequences of coding mutations can often be predicted simply from their effect on a gene’s sequence. Noncoding mutations require more work. In this issue of , Yang and colleagues use 3D genomics to make an important contribution to the list of functional noncoding mutations in cancer. They show that microdeletions at 13q12.2 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) eliminate the boundary of a topologically associated domain (TAD) at the locus, which results in higher expression of , an important driver gene in acute leukemias.
编码突变的分子后果通常可以根据其对基因序列的影响来简单预测。而非编码突变则需要更多的工作。在本期 杂志中,Yang 及其同事利用 3D 基因组学为癌症中功能性非编码突变的列表做出了重要贡献。他们表明,B 细胞前体急性淋巴细胞白血病 (BCP-ALL) 中 13q12.2 的微缺失消除了 基因座处拓扑关联域 (TAD) 的边界,导致急性白血病中重要驱动基因 的表达升高。