Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing.
Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing.
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DOI：
10.1016/j.csbj.2020.12.009
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发表时间：
2021
影响因子：
6
通讯作者：
Chen L
中科院分区：
文献类型：
--
作者：
Jiang W;Chen L
选择性剪接通过允许一个基因产生多种不同的蛋白质同种型来促进高等真核生物中的大部分蛋白质多样性。它增加了基因表达的另一个调控层。高达 95% 的人类多外显子基因经历选择性剪接以编码具有不同功能的蛋白质。此外，大约 15% 的人类遗传性疾病和癌症与选择性剪接有关。选择性剪接的调节归因于一组精密的机器相互作用，以帮助细胞发育和分化等重要的生物过程。鉴于选择性剪接事件的重要性，它们的准确绘图和定量对于下游分析至关重要，特别是对于将疾病与选择性剪接相关联。然而，从高通量 RNA-seq 数据中获得准确的同种型表达仍然是一项具有挑战性的任务。在这篇小综述中，我们的目的是说明 I) 选择性剪接的机制和调节，II) 与人类疾病相关的选择性剪接，III) 用于从 RNA-seq 定量异构体和选择性剪接的计算工具。
Alternative splicing contributes to the majority of protein diversity in higher eukaryotes by allowing one gene to generate multiple distinct protein isoforms. It adds another regulation layer of gene expression. Up to 95% of human multi-exon genes undergo alternative splicing to encode proteins with different functions. Moreover, around 15% of human hereditary diseases and cancers are associated with alternative splicing. Regulation of alternative splicing is attributed to a set of delicate machineries interacting with each other in aid of important biological processes such as cell development and differentiation. Given the importance of alternative splicing events, their accurate mapping and quantification are paramount for downstream analysis, especially for associating disease with alternative splicing. However, deriving accurate isoform expression from high-throughput RNA-seq data remains a challenging task. In this mini-review, we aim to illustrate I) mechanisms and regulation of alternative splicing, II) alternative splicing associated human disease, III) computational tools for the quantification of isoforms and alternative splicing from RNA-seq.
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影响因子：
16.6
作者：
Byrne A;Beaudin AE;Olsen HE;Jain M;Cole C;Palmer T;DuBois RM;Forsberg EC;Akeson M;Vollmers C
通讯作者：
Vollmers C
影响因子：
14.9
作者：
Chen L;Zheng S
通讯作者：
Zheng S
影响因子：
12.3
作者：
Conesa A;Madrigal P;Tarazona S;Gomez-Cabrero D;Cervera A;McPherson A;Szcześniak MW;Gaffney DJ;Elo LL;Zhang X;Mortazavi A
通讯作者：
Mortazavi A
影响因子：
16.8
作者：
Boehringer, D;Makarov, EM;Stark, H
通讯作者：
Stark, H
影响因子：
14.5
作者：
Cisbani, Giulia;Maxan, Alexander;Cicchetti, Francesca
通讯作者：
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