When the message goes awry: Disease-producing mutations that influence mRNA content and performance

被引:238
作者
Mendell, JT [1 ]
Dietz, HC [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, Inst Med Genet, Howard Hughes Med Inst, Baltimore, MD 21205 USA
关键词
D O I
10.1016/S0092-8674(01)00583-9
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
Mutations that cause disease commonly occur in the coding sequence and directly influence protein structure and function. However, many diseases result from mutations that influence various aspects of mRNA metabolism, including processing, export, stability, and translational control.
引用
收藏
页码:411 / 414
页数:4
相关论文
共 19 条
  • [11] A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    Lorson, CL
    Hahnen, E
    Androphy, EJ
    Wirth, B
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (11) : 6307 - 6311
  • [12] Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1
    Lykke-Andersen, J
    Shu, MD
    Steitz, JA
    [J]. SCIENCE, 2001, 293 (5536) : 1836 - 1839
  • [13] Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA
    McCarthy, EMS
    Phillips, JA
    [J]. HUMAN MOLECULAR GENETICS, 1998, 7 (09) : 1491 - 1496
  • [14] Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability
    Medghalchi, SM
    Frischmeyer, PA
    Mendell, JT
    Kelly, AG
    Lawler, AM
    Dietz, HC
    [J]. HUMAN MOLECULAR GENETICS, 2001, 10 (02) : 99 - 105
  • [15] Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes
    Mendell, JT
    Medghalchi, SM
    Lake, RG
    Noensie, EN
    Dietz, HC
    [J]. MOLECULAR AND CELLULAR BIOLOGY, 2000, 20 (23) : 8944 - 8957
  • [16] Precursor RNAs harboring nonsense codons accumulate near the site of transcription
    Mühlemann, O
    Mock-Casagrande, CS
    Wang, J
    Li, SL
    Custódio, N
    Carmo-Fonseca, M
    Wilkinson, MF
    Moore, MJ
    [J]. MOLECULAR CELL, 2001, 8 (01) : 33 - 43
  • [17] Aberrant mRNAs with extended 3′ UTRs are substrates for rapid degradation by mRNA surveillance
    Muhlrad, D
    Parker, R
    [J]. RNA, 1999, 5 (10) : 1299 - 1307
  • [18] The RNA binding protein Pub1 modulates the stability of transcripts containing upstream open reading frames
    Ruiz-Echevarría, MJ
    Peltz, SW
    [J]. CELL, 2000, 101 (07) : 741 - 751
  • [19] The cap-to-tail guide to mRNA turnover
    Wilusz, CJ
    Wormington, M
    Peltz, SW
    [J]. NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2001, 2 (04) : 237 - 246