Translating RNA Splicing Analysis into Diagnosis and Therapy
Abstract
(ISSN 2577-5790)
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 a variety of article types (Original Research, Review, Communication, Opinion, Comment, Conference Report, Technical Note, Book Review, 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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Special Issue
Alternative Splicing: A Key Process in Development and Disease
Submission Deadline: December 31, 2020 (Open) Submit Now
Guest Editor
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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Publication
Translating RNA Splicing Analysis into Diagnosis and Therapyby
Andrew G.L. Douglas
and
Diana Baralle
Abstract A large proportion of rare disease patients remain undiagnosed and the vast majority of such conditions remain untreatable whether diagnosed or not. RNA splicing analysis is able to increase the diagnostic rate in rare disease by identifying cryptic splicing mutations and can help in interpreting the pathogenicity of genomic variants. Whilst [...] |
H-Ras Pre-mRNA Contains A Regulatory Non-coding RNAby
Montse Bach-Elias
and
Mariette Kokolo
Abstract Non-coding RNAs (ncRNAs) have emerged as one of the most abundant regulatory molecules. However, their roles and functions are significantly different from those of proteins. Moreover, around 95% of the human genome contains non-coding DNA. ncRNAs contribute by far the majority of human transcriptional units, and the functions of the most [...] |
Splicing HAC1/XBP1 mRNAs in Cytoplasm: The Non-Conventional mRNA Splicing Reaction in the Unfolded Protein ResponseAbstract The majority of the secretory and transmembrane proteins are folded in the endoplasmic reticulum (ER). When unfolded proteins accumulate in the ER, a collective of signalling pathways, termed the unfolded protein response (UPR), are activated to restore the ER protein folding homeostasis. The most evolutionarily conserved branch of UPR is [...] |
Knight in Splicing Armor: Alternative Splicing as a Neuroprotective MechanismAbstract By adjusting gene expression in response to environmental changes, cells can optimize fitness as needed. Alternative splicing is one of the most important post-transcriptional regulation steps, broadly involved in diverse physiological and pathological conditions. Here, we present 5 cases of alternative splicing conferring increase [...] |
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