tailieunhanh - Báo cáo khoa học: Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies

What makes a nucleotide sequence an exon (or an intron) is a question that still lacks a satisfactory answer. Indeed, most eukaryotic genes are full of sequences that look like perfect exons, but which are nonetheless ignored by the splicing machinery (hence the name ‘pseudoexons’). | ỊFEBS Journal MINIREVIEW Alternative splicing role of pseudoexons in human disease and potential therapeutic strategies Ashish Dhir and Emanuele Buratti InternationalCentre for Genetic Engineering and Biotechnology ICGEB Trieste Italy Keywords alternative splicing antisense oligonucleotides mRNA pseudoexons splicing therapy Correspondence E. Buratti Padriciano 99 34012 Trieste Italy Fax 39 040 226555 Tel 39 040 3757316 E-mail buratti@ Received 26 August 2009 revised 15 October 2009 accepted 5 November 2009 doi What makes a nucleotide sequence an exon or an intron is a question that still lacks a satisfactory answer. Indeed most eukaryotic genes are full of sequences that look like perfect exons but which are nonetheless ignored by the splicing machinery hence the name pseudoexons . The existence of these pseudoexons has been known since the earliest days of splicing research but until recently the tendency has been to view them as an interesting but rather rare curiosity. In recent years however the importance of pseudoexons in regulating splicing processes has been steadily revalued. Even more importantly clinically oriented screening studies that search for splicing mutations are beginning to uncover a situation where aberrant pseudoexon inclusion as a cause of human disease is more frequent than previously thought. Here we aim to provide a review of the mechanisms that lead to pseudoexon activation in human genes and how the various cis- and trans-acting cellular factors regulate their inclusion. Moreover we list the potential therapeutic approaches that are being tested with the aim of inhibiting their inclusion in the final mRNA molecules. Introduction Towards the end of the 1970s in the beginning of pre-mRNA splicing research 1 2 defining exons and introns was essentially based on observing the final composition of the mature mRNA molecule. In 1978 any sequence that was included in a mature mRNA became tagged as an .

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