剪接异常在骨髓增生异常综合征发病机制中的作用

发布时间：2018-05-25 04:33

本文选题：SFB + SRSF　；参考：《中国实验血液学杂志》2017年02期

【摘要】：近年来应用高通量测序技术较全面地揭示了骨髓增生异常综合征(MDS)的基因突变谱系,但对这些基因突变在MDS发生、发展中的作用知之甚少。剪接因子突变是MDS这组异质性疾病中最常见的分子学异常。在最近研究中发现了SF3B1、SRSF2、U2AF1突变以及端粒酶功能异常导致的剪接因子失调而影响前体mRNA剪接的具体机制,揭示了可能的下游靶基因,初步阐释了剪接异常对造血功能的影响及其在MDS发病机制中的作用,并建立了相应的动物模型,对寻找MDS新的治疗靶点具有重要意义。本文就剪接异常在骨髓增生异常综合征发病机制中的作用进行了综述。
[Abstract]:In recent years, high-throughput sequencing techniques have been used to reveal the gene mutation lineage of myelodysplastic syndromes (MDS), but little is known about the role of these mutations in the development of MDS. Splicing factor mutation is the most common molecular abnormality in MDS. In recent studies, we have discovered the specific mechanism of SF3B1SSRSF2U2AF1 mutation and splicing factor imbalance caused by abnormal telomerase function, which affects the splicing of precursor mRNA, which reveals the possible downstream target gene. The effects of splicing abnormality on hematopoietic function and its role in the pathogenesis of MDS were preliminarily explained, and the corresponding animal model was established, which is of great significance for finding new therapeutic targets for MDS. This article reviews the role of splicing abnormalities in the pathogenesis of myelodysplastic syndrome.
【作者单位】：湖南师范大学医学院;江苏省中医院/南京中医药大学附属医院血液科;中国医学科学院北京协和医学院血液学研究所血液病医院实验血液学国家重点实验室;
【基金】：国家自然科学基金(81000201) 江苏省中医院高峰人才项目(y2014rc10) 国家留学基金(201308320259)资助
【分类号】：R551.3

【相似文献】