Nonsense-mediated mRNA decay in health and disease

被引:833
作者
Frischmeyer, PA
Dietz, HC [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA
[2] Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21205 USA
关键词
D O I
10.1093/hmg/8.10.1893
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
All eukaryotes possess the ability to detect and degrade transcripts harboring premature signals for the termination of translation. Despite the ubiquitous nature of nonsense-mediated mRNA decay (NMD) and its demonstrated role in the modulation of phenotypes resulting from selected nonsense alleles, very little is known regarding its basic mechanism or the selective pressure for complete evolutionary conservation of this function. This review will present the current models of NMD that have been generated during the study of model organisms and mammalian cells. The physiological burden of nonsense transcripts and the emerging view that NMD plays a broad and critical role in the regulation of gene expression will also be discussed. Such issues are relevant to the proposal that pharmacological manipulation of NMD will find therapeutic application.
引用
收藏
页码:1893 / 1900
页数:8
相关论文
共 83 条
[1]  
ABELIOVICH D, 1992, AM J HUM GENET, V51, P951
[2]   NAM7 NUCLEAR GENE ENCODES A NOVEL MEMBER OF A FAMILY OF HELICASES WITH A ZN-LIGAND MOTIF AND IS INVOLVED IN MITOCHONDRIAL FUNCTIONS IN SACCHAROMYCES-CEREVISIAE [J].
ALTAMURA, N ;
GROUDINSKY, O ;
DUJARDIN, G ;
SLONIMSKI, PP .
JOURNAL OF MOLECULAR BIOLOGY, 1992, 224 (03) :575-587
[3]   Nonsense mutations inhibit RNA splicing in a cell-free system: Recognition of mutant codon is independent of protein synthesis [J].
Aoufouchi, S ;
Yelamos, J ;
Milstein, C .
CELL, 1996, 85 (03) :415-422
[4]   QUANTITATIVE DIFFERENCES IN BIOSYNTHESIS AND EXTRACELLULAR DEPOSITION OF FIBRILLIN IN CULTURED FIBROBLASTS DISTINGUISH 5 GROUPS OF MARFAN-SYNDROME PATIENTS AND SUGGEST DISTINCT PATHOGENETIC MECHANISMS [J].
AOYAMA, T ;
FRANCKE, U ;
DIETZ, HC ;
FURTHMAYR, H .
JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (01) :130-137
[5]  
APPLEQUIST SE, 1997, NUCLEIC ACIDS RES, V25, P15
[6]   Relationship between yeast polyribosomes and Upf proteins required for nonsense mRNA decay [J].
Atkin, AL ;
Schenkman, LR ;
Eastham, M ;
Dahlseid, JN ;
Lelivelt, MJ ;
Culbertson, MR .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (35) :22163-22172
[7]  
ATKIN AL, 1995, MOL BIOL CELL, V6, P611
[8]   NONSENSE MUTATIONS IN THE HUMAN BETA-GLOBIN GENE AFFECT MESSENGER-RNA METABOLISM [J].
BASERGA, SJ ;
BENZ, EJ .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (07) :2056-2060
[9]   CONSEQUENCES OF FRAMESHIFT MUTATIONS AT THE IMMUNOGLOBULIN HEAVY-CHAIN LOCUS OF THE MOUSE [J].
BAUMANN, B ;
POTASH, MJ ;
KOHLER, G .
EMBO JOURNAL, 1985, 4 (02) :351-359
[10]   Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line [J].
Bedwell, DM ;
Kaenjak, A ;
Benos, DJ ;
Bebok, Z ;
Bubien, JK ;
Hong, J ;
Tousson, A ;
Clancy, JP ;
Sorscher, EJ .
NATURE MEDICINE, 1997, 3 (11) :1280-1284