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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.

DOI:10.1182/blood-2017-02-692715
PMID:28348147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5418633/
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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本文引用的文献

1
SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing.SF3B1/Hsh155热基序突变影响与剪接体ATP酶Prp5的相互作用，导致前体mRNA剪接中分支位点选择性改变。
Genes Dev. 2016 Dec 15;30(24):2710-2723. doi: 10.1101/gad.291872.116.
2
Mutant U2AF1-expressing cells are sensitive to pharmacological modulation of the spliceosome.表达突变 U2AF1 的细胞对剪接体的药理学调节敏感。
Nat Commun. 2017 Jan 9;8:14060. doi: 10.1038/ncomms14060.
3
SF3b1 mutations associated with myelodysplastic syndromes alter the fidelity of branchsite selection in yeast.与骨髓增生异常综合征相关的SF3b1突变会改变酵母中分支位点选择的保真度。
Nucleic Acids Res. 2017 May 5;45(8):4837-4852. doi: 10.1093/nar/gkw1349.
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Dynamics of clonal evolution in myelodysplastic syndromes.骨髓增生异常综合征的克隆进化动力学
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