信使核糖核酸剪接改变如何驱动骨髓增生异常综合征？
How do messenger RNA splicing alterations drive myelodysplasia?
作者信息
Joshi Poorval, Halene Stephanie, Abdel-Wahab Omar
机构信息
Section of Hematology, Yale Comprehensive Cancer Center and Department of Internal Medicine, Yale University School of Medicine, New Haven, CT; and.
Human Oncology and Pathogenesis Program and Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
出版信息
Blood. 2017 May 4;129(18):2465-2470. doi: 10.1182/blood-2017-02-692715. Epub 2017 Mar 27.
Abstract
Mutations in RNA splicing factors are the single most common class of genetic alterations in myelodysplastic syndrome (MDS) patients. Although much has been learned about how these mutations affect splicing at a global- and transcript-specific level, critical questions about the role of these mutations in MDS development and maintenance remain. Here we present the questions to be addressed in order to understand the unique enrichment of these mutations in MDS.
摘要
RNA剪接因子突变是骨髓增生异常综合征（MDS）患者中最常见的单一类遗传改变。尽管在全局和转录本特异性水平上，人们已经对这些突变如何影响剪接有了很多了解，但关于这些突变在MDS发生和维持中的作用仍存在关键问题。在此，我们提出了一些需要解决的问题，以便了解这些突变在MDS中的独特富集情况。
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