Alternative Splicing and Disease by Laurent Bracco, Emeline Throo, Olivier Cochet (auth.),

By Laurent Bracco, Emeline Throo, Olivier Cochet (auth.), Professor Dr. Philippe Jeanteur (eds.)

Splicing of basic RNA transcript, i.e. removing of introns and becoming a member of of exons to provide mature mRNAs powerfuble for translation into proteins, is a quasi-systematic step of gene expression in greater organisms. notwithstanding, this technique isn't really unequivocal yet can stick to exchange pathways. replacement splicing of a given transcript can for this reason yield numerous designated mRNAs encoding as many various proteins. Its complete organic value has no longer been liked until eventually it was once famous that replacement splicing is so common as to impact approximately seventy five% of all human genes. for that reason, replacement splicing not just significantly raises protein range but in addition bargains various possibilities for aberrant splicing occasions with pathological consequences.

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In addition, the functional relevance of splice variants will be eased via the advances of siRNA technologies in which isoform specific knock-down could be achieved (Kisielow et al. 2002, Celotto et al 2005). This would allow, for instance, study of the impact of expressing a given splice variant within settings in which the associated wild-type RNA would be expressed or not. The human transcriptome is undoubtedly more complex than once thought. Some of the major promised applications of genomics for human health will rely in our capacity to describe it in more depth and accuracy.

This will occur when a novel exon is added or when a splice event induces a shift in the reading frame and does not introduce a stop codon too soon. Provided the novel amino-acid content displays antigenic regions, specific antibodies are likely to be generated as exemplified for a MUC1 splice variant (Levitin et al. 2005) or for CD44 isoforms (Bennett et al. 1995). In any event, the ability to generate robust, quantitative measurements at the protein level necessitates the development of immunoassays such as ELISA that will require at least one antibody specific for the splice variant.

2004b). These two examples illustrate some of the general principles of diseases caused by misregulated splicing: mutations in splicing regulatory sequences can be hard to detect and translationally silent point mutations or intronic mutations can have drastic effects. The effect of the identical mutation on splice site selection can vary between cell types, which can cause specific, sometimes atypical, phenotypes. Identical mutations show also different penetrance when different individuals are analyzed, suggesting that alternative splicing could be a genetic modifier (Nissim-Rafinia and Kerem 2002).

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