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. even if, this technique isn't unequivocal yet can persist with trade pathways. substitute splicing of a given transcript can for that reason yield numerous designated mRNAs encoding as many alternative proteins. Its complete organic value has now not been liked till it used to be famous that substitute splicing is so basic as to impact approximately seventy five% of all human genes. for this reason, substitute splicing not just enormously raises protein range but in addition bargains various possibilities for aberrant splicing occasions with pathological consequences.
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Extra info for Alternative Splicing and Disease
This indicates that the proper concentration of regulatory factors is necessary for cell survival. However, the loss of splicing factors in differentiated cells can be tolerated and leads to specific phenotypes (Xu et al. 2005). Mutations in proteins implicated in splicing have been observed in retinitis pigmentosa, a progressive loss of photoreceptor cells during childhood, where PRP31 is mutated (Vithana et al. 2001) and forms of azospermia, where RBMY has been deleted (Venables et al. 2000).
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1994) CTTATGAACGACTGG CTTATGAATGACTGG GGGCGCTGG GGGCACTGG GGGGAGTGAGACTTC Llewellyn et al. (1996) Liu et al. (1997) Chen et al. (1998) Ferrari et al. (2001) Hasegawa et al. (1994) Gu et al. (2001) GTGATTCGCGTGGGT GTGATTCGGGTGGGT Porphobilinogen deaminase Fumarylacetoacetate hydrolase Pyruvate dehydrogenase E1 alpha TNFRSF5, tumorCTACAGGG necrosis factor CTACTGGG receptor superfamily, member 5 (CD40); CCTATGGGCCGTT CYP27A1 CCTATGTGCCGTT GGGATCATCGTGGGA Fibrillin-1 GGGATCATTGTGGGA MNK Menkes disease Bardet-Biedl Syndrome MGC1203 Zavadakova et al.