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 greater organisms. this is often the 1st publication to spotlight the scientific implications, i.e. ailments, because of substitute splicing. replacement splicing not just greatly raises protein variety but in addition bargains various possibilities for aberrant splicing occasions with pathological effects. The publication additionally outlines attainable ambitions for remedy.

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2003). Several RNA based approaches have been tested in cell culture. They include the use of RNAi to suppress unwanted isoforms (Celotto and Graveley 2002), spliceosome-mediated RNA trans-splicing (SmaRT) to correct factor VIII deficiency in a mouse model (Chao et al. 2003) and ribozymes that use trans-splicing to replace defective p53, beta-globin mRNA and a chloride channel in cell culture (Lan et al. 1998; Watanabe and Sullenger 2000; Rogers et al. 2002). Finally, antisense oligonucleotides have been used to modify U7 snRNA, which results in the nuclear accumulation of the oligonucleotide sequences in stable U7snRNP complexes (Asparuhova et al.

2006). , Wilms’ tumor, breast cancer, melanoma, and prostate cancer (Table 2). Furthermore, EST analysis demonstrates widespread changes of alternative splicing patterns in cancer cells (Xu and Lee 2003) when compared with normal cells. However, these changes have to be interpreted with caution, since they are not always reproducible by RT-PCR analysis (Gupta et al. 2004). Strikingly, in the majority of cancer tissues, mutations in the genes giving rise to altered mRNA isoforms have not been observed.

30 of Exon 10 (L284L) CTGGATCTTAGCAAC CTGGATCTCAGCAAC G>A at pos. 92 of Exon10 (S305 N) improves the splice site GGCAGTGTGA GGCAATGTGA Mutation Jin et al. (1996) Iijima et al. (1999) D’Souza et al. (1999) Rizzu et al. (1999) Clark et al. (1998) Reference Table 1. Examples of enhancer mutations involved in human diseases. The table lists examples of mutations in regulatory motifs that cause aberrant splicing. uk/asd/). Large letters indicate exonic mutations, small letters indicate intronic mutations.

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