By Philippe Jeanteur

Splicing of basic RNA transcript is a quasi-systematic step of gene expression in greater organisms. this is often the 1st ebook to spotlight the scientific implications, i.e. illnesses, brought on by replacement splicing. replacement splicing not just significantly raises protein range but in addition bargains a variety of possibilities for aberrant splicing occasions with pathological results. The ebook additionally outlines attainable objectives for treatment.

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Additional info for Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology)

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3 Diagnostics Up to now, the majority of studies analyzing splice site selection were done by RT-PCR (Stamm et al. 2000). Recently, microarray formats have successfully Pre-mRNA Missplicing as a Cause of Human Disease 39 been used to detect changes in splice site selection associated with diseases (Fehlbaum et al. 2005; Relogio et al. 2005). These microarrays use several oligonucleotides located within the exon and on the exon–exon junctions to illucidate the presence and connections of alternative exons.

The disease can manifest in four phenotypes (type I to IV) that differ in onset and severity. The phenotypes correlate roughly with the number of SMN2 copies in the genome, most likely because more SMN2 copies produce more SMN protein. Since stimulation of SMN2 exon 7 usage would increase SMN protein levels and potentially cure the disease, work has concentrated on understanding the regulation of exon 7. As for CFTR exon 9 and 12, multiple factors determine the regulation, including a suboptimal polypyrimidine tract (Singh 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. 6 Conclusion The tools and platforms are present to appropriately take into account expression data coming from splice variants. Several alternatives exist to quantify limited numbers of genes and variants. They all, however, require careful design and adequate controls to ensure that specificity is achieved.

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