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.
Archiving: full-text archived in CLOCKSS.
Rapid publication: manuscripts are undertaken in 15.0 days from acceptance to publication (median values for papers published in this journal in the second half of 2021, 1-2 days of FREE language polishing time is also included in this period).
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.
Received: 31 December 2020; Published: 08 March 2021; doi: 10.21926/obm.genet.2101125
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 [...]
Received: 25 June 2020; Published: 16 November 2020; doi: 10.21926/obm.genet.2004118
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 Response
Received: 23 March 2020; Published: 22 May 2020; doi: 10.21926/obm.genet.2002110
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 [...]
Received: 13 January 2020; Published: 20 March 2020; doi: 10.21926/obm.genet.2001106
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 [...]
To prevent robots and page crawlers from submitting fraudulent forms, complete verification to prove that you are a human.