OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
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RNA Alternative Splicing
Submission Deadline: December 31, 2022 (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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