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人类疾病中前体信使核糖核酸剪接的缺陷控制

Defective control of pre-messenger RNA splicing in human disease.

作者信息

Chabot Benoit, Shkreta Lulzim

机构信息

Centre of Excellence in RNA Biology, Department of Microbiology and Infectious Diseases, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec J1E 4K8, Canada

Centre of Excellence in RNA Biology, Department of Microbiology and Infectious Diseases, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec J1E 4K8, Canada.

出版信息

J Cell Biol. 2016 Jan 4;212(1):13-27. doi: 10.1083/jcb.201510032.

DOI:10.1083/jcb.201510032
PMID:26728853
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4700483/
Abstract

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 myelodysplastic syndromes, cancer, and neuropathologies.

摘要

人类疾病与前体信使核糖核酸剪接/可变剪接缺陷之间关联的例子越来越多。虽然许多改变是由剪接信号或调控序列元件的突变引起的，但最近的研究指出了突变的通用剪接体成分和剪接调节蛋白的破坏作用。本综述重点介绍了我们在理解RNA结合蛋白剪接功能改变如何导致骨髓增生异常综合征、癌症和神经病理学方面的最新进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/9f96deab50ce/JCB_201510032_Fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/f26e548ab91c/JCB_201510032_Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/1d502d737498/JCB_201510032_Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/d36794b014d0/JCB_201510032_Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/d59710356552/JCB_201510032_Fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/c6ed483e26bb/JCB_201510032_Fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/9f96deab50ce/JCB_201510032_Fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/f26e548ab91c/JCB_201510032_Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/1d502d737498/JCB_201510032_Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/d36794b014d0/JCB_201510032_Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/d59710356552/JCB_201510032_Fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/c6ed483e26bb/JCB_201510032_Fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/faf3/4700483/9f96deab50ce/JCB_201510032_Fig6.jpg

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