Defective control of pre-messenger RNA splicing in human disease

被引：164

作者：

Chabot, Benoit ^{[1
]}

Shkreta, Lulzim ^{[1
]}

机构：

[1] Univ Sherbrooke, Fac Med & Hlth Sci, Dept Microbiol & Infect Dis, Ctr Excellence RNA Biol, Sherbrooke, PQ J1E 4K8, Canada

来源：

JOURNAL OF CELL BIOLOGY | 2016年 / 212卷 / 01期

基金：

加拿大健康研究院;

关键词：

PRE-MESSENGER-RNA; SPINAL MUSCULAR-ATROPHY; MYELODYSPLASTIC SYNDROME; BINDING PROTEINS; RECURRENT MUTATIONS; HEMATOPOIETIC STEM; REGULATORY NETWORK; PYRUVATE-KINASE; SF3B1; MUTATIONS; U2AF1;

D O I：

10.1083/jcb.201510032

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Examples of associations between human disease and defects in pre-messenger RNA splicing/alternative splicing are accumulating. Although many alterations are caused by mutations in splicing signals or regulatory sequence elements, recent studies have noted the disruptive impact of mutated generic spliceosome components and splicing regulatory proteins. This review highlights recent progress in our understanding of how the altered splicing function of RNA-binding proteins contributes to myelodys-plastic syndromes, cancer, and neuropathologies.

引用

页码：13 / 27

页数：15

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