NASty effects on fibrillin pre-mRNA splicing: Another case of ESE does it, but proposals for translation-dependent splice site choice live on

Genes and Development

Volumn 16, Issue 14, 2002, Pages 1743-1753

  Maquat, Lynne E ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN; MESSENGER RNA;

FRAMESHIFT MUTATION; GENETIC CODE; GENETIC TRANSCRIPTION; NONSENSE MUTATION; PRIORITY JOURNAL; REVIEW; RNA SPLICING; RNA TRANSLATION; STOP CODON; TRANSCRIPTION REGULATION; TRANSLATION REGULATION;

ALTERNATIVE SPLICING; ANIMALS; BINDING SITES; CELL NUCLEUS; CODON, NONSENSE; ENHANCER ELEMENTS (GENETICS); EXONS; HUMANS; MICROFILAMENT PROTEINS; PROTEIN BIOSYNTHESIS; RNA PRECURSORS;

EID: 0037099212     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.1014502     Document Type: Review

References (45)

1. Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life
2. Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
3. EST comparison indicates 38% of human mRNAs contain possible alternative splice forms
4. Nonsense mutations in the alcohol dehydrogenase gene of Drosophila melanogaster correlate with an abnormal 3′ end processing of the corresponding pre-mRNA
5. Ribosomes are associated with sites of transcription
6. Intranuclear degradation of nonsense codon-containing mRNA
7. A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an SC35-dependent splicing enhancer
8. Listening to silence and understanding nonsense: Exonic mutations that affect splicing
9. The regulation of splice-site selection, and its role in human disease
10. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
11. The skipping of constitutive exons in vivo induced by nonsense mutations
12. Human genomic sequences that inhibit splicing
13. Predictive identification of exonic splicing enhancers in human genes
14. Stimulatory effect of splicing factors on transcriptional elongation
15. A premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent manner
16. A premature termination codon in either exon of minute virus of mice P4 promoter-generated pre-mRNA can inhibit nuclear splicing of the intervening intron in an open reading frame-dependent manner
17. Sorting out the complexity of SR protein functions
18. A perfect message: RNA surveillance and nonsense-mediated decay
19. Coupled transcription and translation within nuclei of mammalian cells
20. Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20
21. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
22. Initial sequencing and analysis of the human genome
23. The exon junction complex is detected on CBP80-bound but not eIF4E-bound mRNA in mammalian cells: Dynamics of mRNP remodeling
24. Stop codons affect 5′ splice site selection by surveillance of splicing
25. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
26. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
27. Proofreading and aminoacylation of tRNAs before export from the nucleus
28. An extensive network of coupling among gene expression machines
29. The power of point mutations
30. Nonsense-mediated mRNA decay in mammalian cells: From pre-mRNA processing to mRNA translation and degradation
31. Quality control of mRNA function
32. When the message goes awry: Disease-producing mutations that influence mRNA content and performance
33. Heat shock affects 5′ splice site selection, cleavage and ligation of CAD pre-mRNA in hamster cells, but not its packaging in InRNP particles
34. Genomewide detection of alternative splicing in expressed sequence of human genes
35. Precursor RNAs harboring nonsense codons accumulate near the site of transcription
36. Active aminoacyl tRNA synthetases are present in nuclei as a high molecular weight multienzyme complex
37. Nonsense-mediated decay of human HEXA mRNA
38. A conserved mRNA export machinery coupled to pre-mRNA splicing
39. TREX is a conserved complex coupling transcription with messenger RNA export
40. The emerging roles of translation factor elF4E in the nucleus
41. The cytoplasmic maturation of a ribosomal precursor ribonucleic acid in yeast
42. The association of nonsense codons with exon skipping
43. Nonsense codons induce alternatively spliced mRNA by a translation-like mechanism
44. RNA surveillance by nuclear scanning?
45. RNA interference in human cells is restricted to the cytoplasm