Alternative Splicing and Disease (Progress in Molecular and by Philippe Jeanteur

By Philippe Jeanteur

Splicing of basic RNA transcript is a quasi-systematic step of gene expression in larger organisms. this can be the 1st ebook to focus on the clinical implications, i.e. ailments, brought on by substitute splicing. substitute splicing not just tremendously raises protein range but in addition bargains various possibilities for aberrant splicing occasions with pathological effects. The ebook additionally outlines attainable ambitions for treatment.

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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.

3: 21 Pre-mRNA Missplicing as a Cause of Human Disease Tatyana Novoyatleva, Yesheng Tang, Ilona Rafalska, Stefan Stamm Abstract. Regulated alternative splice site selection emerges as one of the most important mechanisms to control the expression of genetic information in humans. It is therefore not surprising that a growing number of diseases are either associated with or caused by changes in alternative splicing. These diseases can be caused by mutation in regulatory sequences of the pre-mRNA or by changes in the concentration of trans-acting factors.

2005). 6 Conclusions Misregulated alternative splicing emerges as a new cause for human diseases. Recent progress shows that misregulation of alternative splicing can be reversed. Most of the treatment paradigms are in the experimental stage. However, the growing list of drugs interfering with splice-site selection promises that some treatment options will be moved to the clinic soon. References Anderson SL, Qiu J, Rubin BY (2003) EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia.

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Alternative Splicing and Disease (Progress in Molecular and by Philippe Jeanteur
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