RNA and Disease

被引:904
作者
Cooper, Thomas A. [1 ,2 ]
Wan, Lili [3 ,4 ]
Dreyfuss, Gideon [3 ,4 ]
机构
[1] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA
[3] Univ Penn, Sch Med, Howard Hughes Med Inst, Philadelphia, PA 19104 USA
[4] Univ Penn, Sch Med, Dept Biochem & Biophys, Philadelphia, PA 19104 USA
基金
美国国家卫生研究院;
关键词
SPINAL MUSCULAR-ATROPHY; ALTERNATIVE SPLICING REGULATORS; MESSENGER-RNA; BINDING-PROTEINS; ANTISENSE OLIGONUCLEOTIDES; MYOTONIC-DYSTROPHY; DROSOPHILA MODEL; GENE-EXPRESSION; OCULAR NEOVASCULARIZATION; NONSENSE MUTATIONS;
D O I
10.1016/j.cell.2009.02.011
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Cellular functions depend on numerous protein-coding and noncoding RNAs and the RNA-binding proteins associated with them, which form ribonucleoprotein complexes (RNPs). Mutations that disrupt either the RNA or protein components of RNPs or the factors required for their assembly can be deleterious. Alternative splicing provides cells with an exquisite capacity to fine-tune their transcriptome and proteome in response to cues. Splicing depends on a complex code, numerous RNA-binding proteins, and an enormously intricate network of interactions among them, increasing the opportunity for exposure to mutations and misregulation that cause disease. The discovery of disease-causing mutations in RNAs is yielding a wealth of new therapeutic targets, and the growing understanding of RNA biology and chemistry is providing new RNA-based tools for developing therapeutics.
引用
收藏
页码:777 / 793
页数:17
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