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
相关论文
共 149 条
  • [1] Applications of RNA interference: current state and prospects for siRNA-based strategies in vivo
    Aigner, Achim
    [J]. APPLIED MICROBIOLOGY AND BIOTECHNOLOGY, 2007, 76 (01) : 9 - 21
  • [2] Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
    Alter, J
    Lou, F
    Rabinowitz, A
    Yin, HF
    Rosenfeld, J
    Wilton, SD
    Partridge, TA
    Lu, QL
    [J]. NATURE MEDICINE, 2006, 12 (02) : 175 - 177
  • [3] Inhibition of HIV-1 muttiptication by a modified U7 snRNA inducing Tat and Rev exon skipping
    Asparuhova, Maria B.
    Marti, Gabriela
    Liu, Songkai
    Serhan, Fatima
    Trono, Didier
    Schuemperli, Daniel
    [J]. JOURNAL OF GENE MEDICINE, 2007, 9 (05) : 323 - 334
  • [4] Mammalian CELF/Bruno-like RNA-binding proteins:: molecular characteristics and biological functions
    Barreau, Carine
    Paillard, Luc
    Mereau, Agnes
    Osborne, H. Beverley
    [J]. BIOCHIMIE, 2006, 88 (05) : 515 - 525
  • [5] The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
    Bhalla, K
    Phillips, HA
    Crawford, J
    McKenzie, OLD
    Mulley, JC
    Eyre, H
    Gardner, AE
    Kremmidiotis, G
    Callen, DF
    [J]. JOURNAL OF HUMAN GENETICS, 2004, 49 (06) : 308 - 311
  • [6] Artificial MicroRNAs as siRNA Shuttles: Improved Safety as Compared to shRNAs In vitro and In vivo
    Boudreau, Ryan L.
    Martins, Ines
    Davidson, Beverly L.
    [J]. MOLECULAR THERAPY, 2009, 17 (01) : 169 - 175
  • [7] Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of Exon 9: A functional link with disease penetrance
    Buratti, E
    Brindisi, A
    Pagani, F
    Baralle, FE
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (06) : 1322 - 1325
  • [8] Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease
    Buratti, Emanuele
    Baralle, Francisco E.
    [J]. FRONTIERS IN BIOSCIENCE-LANDMARK, 2008, 13 : 867 - 878
  • [9] Alternative splicing:: multiple control mechanisms and involvement in human disease
    Cáceres, JF
    Kornblihtt, AR
    [J]. TRENDS IN GENETICS, 2002, 18 (04) : 186 - 193
  • [10] A specific subset of SR proteins shuttles continuously between the nucleus and the cytoplasm
    Cáceres, JF
    Screaton, GR
    Krainer, AR
    [J]. GENES & DEVELOPMENT, 1998, 12 (01) : 55 - 66