Human Oncology and Pathogenesis Program.
Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Curr Opin Hematol. 2021 Jul 1;28(4):277-283. doi: 10.1097/MOH.0000000000000661.
Splicing mutations are among the most recurrent genetic perturbations in hematological malignancies, highlighting an important impact of splicing regulation in hematopoietic development. However, compared to our understanding of splicing factor mutations in hematological malignancies, studies of splicing components and alternative splicing in normal hematopoiesis have been less well investigated. Here, we outline the most recent findings on splicing regulation in normal hematopoiesis and discuss the important questions in the field.
Recent studies have highlighted the critical role of splicing regulation in hematopoiesis, including characterization of splicing components in normal hematopoiesis, investigation of transcriptional alterations on splicing, and identification of stage-specific alternative splicing events during hematopoietic development.
These interesting findings provide insights on hematopoietic regulation at a co-transcriptional level. More high-throughput RNA ribonucleic acid (RNA) sequencing and functional genomic screens are needed to advance our knowledge of critical alternative splicing patterns in shaping hematopoiesis.
剪接突变是血液恶性肿瘤中最常见的遗传扰动之一，突出了剪接调控对造血发育的重要影响。然而，与我们对血液恶性肿瘤中剪接因子突变的理解相比，对正常造血中剪接成分和可变剪接的研究还不够深入。在这里，我们概述了正常造血中剪接调控的最新发现，并讨论了该领域的重要问题。
最近的研究强调了剪接调控在造血中的关键作用，包括正常造血中剪接成分的特征、剪接转录改变的研究，以及造血发育过程中特定阶段的可变剪接事件的鉴定。
这些有趣的发现为转录水平上的造血调控提供了深入的见解。需要更多的高通量 RNA 测序和功能基因组筛选来推进我们对塑造造血的关键可变剪接模式的认识。
