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.
Read Online or Download Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology) PDF
Similar molecular biology books
The volumes during this sequence comprise modern suggestions major to a selected department of neuroscience. they're a useful relief to the scholar in addition to the skilled researcher not just in constructing protocols in neuroscience yet in disciplines the place learn is changing into heavily regarding neuroscience.
Tools in Muscle Biology is a entire laboratory advisor that info the equipment utilized in the examine of muscle biology. The concepts integrated embody mobile, developmental, and molecular biology, in addition asphysiology, neurobiology, and scientific study.
Kary Mullis used to be provided a Nobel Prize for inventing the PCR procedure greater than 15 years in the past in 1993. because its "discovery", a number of diversifications and adaptations of the traditional PCR method were defined, with a lot of those diversifications and diversifications at present getting used in medical, diagnostic and educational laboratories the world over.
The textbook for mobile and molecular biology classes.
- Part C: Nucleic Acids and Protein Synthesis
- Regenerative Medicine - from Protocol to Patient: 1. Biology of Tissue Regeneration
- Progress in Nucleic Acid Research and Molecular Biology, Vol. 74
- Molecular Biology Of The Cell
- Cellular Degradative Processes
- Introduction to Protein Architecture: The Structural Biology of Proteins
Additional info for Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology)
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.