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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Alternative Splicing: A Key Process in Development and Disease
Submission Deadline: December 31, 2020 (Open) Submit Now
Michael R. Ladomery, PhD
Faculty of Health and Applied Sciences, University of the West of England, Bristol; Frenchay Campus,
Coldharbour Lane, Bristol BS16 1QY, UK
Research Interests: RNA biology; alternative splicing; noncoding RNA; RNA-based cancer therapies
About this topic
Soon after the discovery of pre-mRNA splicing in the late 1970s it became apparent that transcripts can be ‘alternatively spliced’ across eukaryotes. The main modes of alternative splicing are cassette exons that can be skipped; alternative splice sites that change the boundaries of exons; mutually exclusive exons; and retained introns. It is thought that over 94% of multi-exonic genes are alternatively spliced in humans. Alternative splicing is affected by regulatory sequences present within exons and introns. These are recognised by a multitude of splice factors that regulate splicing machinery access. Alternative splicing means that genes can express proteins with strikingly different characteristics. These can even have antagonistic properties (for example pro- or anti-apoptotic splice isoforms). It is then not surprising to find that alternative splicing plays a key role in development and that mutations that disrupt alternative splicing contribute to disease. Alternative splicing research provides enormous opportunities to understand fundamental biological processes; it also presents a new context in which to develop novel therapies.
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