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Pre-mRNA Splicing 2017
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Pre-mRNA Splicing 2017

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Biochemistry".

Deadline for manuscript submissions: closed (31 December 2017) | Viewed by 19254

Special Issue Editor

Prof. Dr. Akila Mayeda

E-Mail Website
Guest Editor
Division of Gene Expression Mechanism, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake 470-1192, Aichi, Japan
Interests: pre-mRNA splicing; mechanism of splicing; regulation of splicing; aberrant splicing in diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In eukaryotes, most gene transcripts (pre-mRNAs) are interrupted by intervening sequences termed “introns”, which are precisely removed by a process called splicing. This process is essential since spliced mRNAs serve as the templates of proteins. The higher eukaryotes have been evolved to gain more and more introns of increasing size; this evolution enables complexity and flexibility in the splicing process, and produces alternative splicing. In humans, alternative splicing is a successful, major strategy for expressing a full proteome of at least 120,000 proteins from an unexpectedly small genome of, at most, 20,500 genes. Recent studies have revealed that over 90% of human genes undergo alternative splicing; over 60% of such splicing processes are tissue-specifically regulated. Regulations in the splicing process are definitely crucial for a wide variety of biological and physiological phenomena. The process is therefore highly discriminatory and faithful, and mis-regulation in this process causes disorders in cell functions, which often leads to severe clinical consequences.

This special issue of the International Journal of Molecular Sciences (IJMS), “Pre-mRNA Splicing”, will cover a broad range of basic and applied studies of pre-mRNA splicing. Topics include, but are not limited to:

  • the mechanism and regulation of constitutive and alternative splicing
  • pre-mRNA–protein interactions
  • hnRNP/mRNP assembly and functions
  • global analyses and evolutional studies of pre-mRNAs and splicing factors
  • pre-mRNA processing in development and diseases

Prof. Akila Mayeda
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

 

Keywords

  • constitutive splicing
  • alternative splicing
  • aberrant splicing
  • splicing mechanism
  • splicing regulation
  • splicing factors
  • splicing enhancers
  • splicing silencers
  • snRNPs
  • hnRNPs
  • mRNPs
  • SR proteins

Related Special Issue

Published Papers (3 papers)

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Research

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17 pages, 3229 KiB  
Article
RNA Trans-Splicing Modulation via Antisense Molecule Interference
by Bernadette Liemberger, Josefina Piñón Hofbauer, Verena Wally, Claudia Arzt, Stefan Hainzl, Thomas Kocher, Eva M. Murauer, Johann W. Bauer, Julia Reichelt and Ulrich Koller
Int. J. Mol. Sci. 2018, 19(3), 762; https://doi.org/10.3390/ijms19030762 - 07 Mar 2018
Cited by 13 | Viewed by 6928
Abstract
In recent years, RNA trans-splicing has emerged as a suitable RNA editing tool for the specific replacement of mutated gene regions at the pre-mRNA level. Although the technology has been successfully applied for the restoration of protein function in various genetic diseases, [...] Read more.
In recent years, RNA trans-splicing has emerged as a suitable RNA editing tool for the specific replacement of mutated gene regions at the pre-mRNA level. Although the technology has been successfully applied for the restoration of protein function in various genetic diseases, a higher trans-splicing efficiency is still desired to facilitate its clinical application. Here, we describe a modified, easily applicable, fluorescence-based screening system for the generation and analysis of antisense molecules specifically capable of improving the RNA reprogramming efficiency of a selected KRT14-specific RNA trans-splicing molecule. Using this screening procedure, we identified several antisense RNAs and short rationally designed oligonucleotides, which are able to increase the trans-splicing efficiency. Thus, we assume that besides the RNA trans-splicing molecule, short antisense molecules can act as splicing modulators, thereby increasing the trans-splicing efficiency to a level that may be sufficient to overcome the effects of certain genetic predispositions, particularly those associated with dominantly inherited diseases. Full article
(This article belongs to the Special Issue Pre-mRNA Splicing 2017)
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12 pages, 1327 KiB  
Article
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290
by Lonneke Duijkers, L. Ingeborgh Van den Born, John Neidhardt, Nathalie M. Bax, Laurence H. M. Pierrache, B. Jeroen Klevering, Rob W. J. Collin and Alejandro Garanto
Int. J. Mol. Sci. 2018, 19(3), 753; https://doi.org/10.3390/ijms19030753 - 07 Mar 2018
Cited by 22 | Viewed by 4153
Abstract
Leber congenital amaurosis (LCA) is a rare inherited retinal disorder affecting approximately 1:50,000 people worldwide. So far, mutations in 25 genes have been associated with LCA, with CEP290 (encoding the Centrosomal protein of 290 kDa) being the most frequently mutated gene. The most [...] Read more.
Leber congenital amaurosis (LCA) is a rare inherited retinal disorder affecting approximately 1:50,000 people worldwide. So far, mutations in 25 genes have been associated with LCA, with CEP290 (encoding the Centrosomal protein of 290 kDa) being the most frequently mutated gene. The most recurrent LCA-causing CEP290 mutation, c.2991+1655A>G, causes the insertion of a pseudoexon into a variable proportion of CEP290 transcripts. We previously demonstrated that antisense oligonucleotides (AONs) have a high therapeutic potential for patients homozygously harbouring this mutation, although to date, it is unclear whether rescuing one single allele is enough to restore CEP290 function. Here, we assessed the AON efficacy at RNA, protein and cellular levels in samples that are compound heterozygous for this mutation, together with a protein-truncating mutation in CEP290. We demonstrate that AONs can efficiently restore splicing and increase protein levels. However, due to a high variability in ciliation among the patient-derived cell lines, the efficacy of the AONs was more difficult to assess at the cellular level. This observation points towards the importance of the severity of the second allele and possibly other genetic variants present in each individual. Overall, AONs seem to be a promising tool to treat CEP290-associated LCA, not only in homozygous but also in compound heterozygous carriers of the c.2991+1655A>G variant. Full article
(This article belongs to the Special Issue Pre-mRNA Splicing 2017)
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Review

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20 pages, 1828 KiB  
Review
Alternative mRNA Splicing in the Pathogenesis of Obesity
by Chi-Ming Wong, Lu Xu and Mabel Yin-Chun Yau
Int. J. Mol. Sci. 2018, 19(2), 632; https://doi.org/10.3390/ijms19020632 - 23 Feb 2018
Cited by 22 | Viewed by 7832
Abstract
Alternative mRNA splicing is an important mechanism in expansion of proteome diversity by production of multiple protein isoforms. However, emerging evidence indicates that only a limited number of annotated protein isoforms by alternative splicing are detected, and the coding sequence of alternative splice [...] Read more.
Alternative mRNA splicing is an important mechanism in expansion of proteome diversity by production of multiple protein isoforms. However, emerging evidence indicates that only a limited number of annotated protein isoforms by alternative splicing are detected, and the coding sequence of alternative splice variants usually is only slightly different from that of the canonical sequence. Nevertheless, mis-splicing is associated with a large array of human diseases. Previous reviews mainly focused on hereditary and somatic mutations in cis-acting RNA sequence elements and trans-acting splicing factors. The importance of environmental perturbations contributed to mis-splicing is not assessed. As significant changes in exon skipping and splicing factors expression levels are observed with diet-induced obesity, this review focuses on several well-known alternatively spliced metabolic factors and discusses recent advances in the regulation of the expressions of splice variants under the pathophysiological conditions of obesity. The potential of targeting the alternative mRNA mis-splicing for obesity-associated diseases therapies will also be discussed. Full article
(This article belongs to the Special Issue Pre-mRNA Splicing 2017)
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