Splicing in disease: disruption of the splicing code and the decoding machinery
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg2164.pdf
Reference122 articles.
1. Johnson, J. M. et al. Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science 302, 2141–2144 (2003). One of the early splicing microarray papers, in which exon–exon junctions from 10,000 human genes were probed using RNA from 52 different human tissues.
2. Black, D. L. Mechanisms of alternative pre-messenger RNA splicing. Annu. Rev. Biochem. 27, 27–48 (2003).
3. Modrek, B. & Lee, C. A genomic view of alternative splicing. Nature Genet. 30, 13–19 (2002).
4. Lewis, B. P., Green, R. E. & Brenner, S. E. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc. Natl Acad. Sci. USA 100, 189–192 (2003). A quantitative computational analysis demonstrating that one-third of alternatively spliced transcripts contain a premature termination codon and are potentially subject to NMD.
5. Blencowe, B. J. Alternative splicing: new insights from global analyses. Cell 126, 37–47 (2006). An outstanding review of the application of splicing microarrays to obtain a global perspective on the regulation of alternative splicing.
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