By Philippe Jeanteur
Splicing of fundamental RNA transcript is a quasi-systematic step of gene expression in better organisms. this can be the 1st booklet to focus on the scientific implications, i.e. ailments, because of substitute splicing. substitute splicing not just drastically raises protein variety but in addition deals a variety of possibilities for aberrant splicing occasions with pathological results. The e-book additionally outlines attainable pursuits for treatment.
Read or Download Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology) PDF
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Extra info for Alternative Splicing and Disease (Progress in Molecular and Subcellular Biology)
Large letters indicate exonic mutations, small letters indicate intronic mutations. The top line of each sequence indicates wild type, the lower line the mutant Acute intermittent porphyria Hereditary tyrosinemia Leigh’s encephalomyelopathy Immunodeficiency Cerebrotendinous xanthomatosis Marfan syndrome Arylsulfatase A Metachromatic leukodystrophy Immunodeficiency CAGACGAGGTC CAGACAAGGTC GATCTTCTGGA GATCT–GGAT Santisteban et al. (1995) Adenosine deaminase GGGGAGCGAGACTTC (Continued ) Ploos van Amstel et al.
The formation of RNP complexes around exons can be disturbed by different ways. 1: Mutations in regulatory sequences can abolish binding of regulatory factors. 2: The concentration of regulatory factors can be altered, either by sequestration in different compartments or through a change of their expression level. 3: Phosphorylation events change the interaction between regulatory proteins, which interferes with exon recognition. Phosphorylation can either inhibit or promote protein:protein interaction.
Rna 9: 1552–1561 Wang H, Hubbell E, Hu JS, Mei G, Cline M, Lu G, Clark T, Siani-Rose MA, Ares M, Kulp DC, Haussler D (2003) Gene structure-based splice variant deconvolution using a microarray platform. Bioinformatics 19 Suppl 1: i315–322 Wang Z, Rolish ME, Yeo G, Tung V, Mawson M, Burge CD (2004) Systematic identification and analysis of exonic splicing silencers. Cell. 119: 831–45 Wellmann S, Taube T, Paal K, Graf VEH, Geilen W, Seifert G, Eckert C, Henze G, Seeger K (2001) Specific reverse transcription-PCR quantification of vascular endothelial growth factor (VEGF) splice variants by LightCycler technology.