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RNA Alternative Splicing
Submission Deadline: August 31, 2021 (Open) Submit Now
Montse Bach-Elias, PhD
Consejo Superior de Investigaciones Científicas, IIBB-CSIC, Barcelona, Spain
Research Interests: alternative splicing; p19 H-Ras; p68 RNA helicase; miRNAs; UsnRNPs; splicing protein cis-factors; splicing RNA structure; Costello syndrome; oncogene; cancer.
About This Topic
The discovery of DNA sequences intervening coding regions transformed the analysis of the protein expression. Not only RNA-intron structures matter, but also regulatory decisions guided by several protein/RNA factors that commit selected exons to be present at the final, processed mRNA. Alternative splicing (AS) may create multiple proteins with specific biological functions, synthetized from an initial pre-mRNA depending on inclusion/exclusion of accurately selected exons. In human cells, over 90% of transcripts are alternatively spliced and, consequently, AS amplifies 20,000 protein-coding genes to obtain many more proteins-isoforms as initially anticipated. In addition, multi-exonic pre-mRNAs normally are regulated by AS rendering isoforms with modulated role or even distinct function in specific tissues, development or the cell-cycle phases. The rate of AS is then crucial in the regulation of the gene expression. Trans-acting factors and cis-acting sites actively construct the lariats-structures to be excised which contain selected exon(s) to be skipped. The main role of the final lariats-structure, that decides which exons will be finally skipped, is clearly emphasized by the presence of RNA-helicases. Finally, misfunction of the AS mechanism may synthesize abnormal protein-isoforms seen in many genetic disorders and in development of cancer. Additionally, mutations either on cis- or trans-splicing factors are often observed in cancer processes.
alternative splicing; intron retention; UsnRNPs, p68 RNA helicase; lariat; intron structure; exon skipping; spliceosome; RNA splicing; introns; exon-intron structure; RNA regulation mechanism; splicing factor mutation; splicing modulation; risdiplam; oncogene alternative splicing.
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