Alternative Splicing in Human Physiology and Disease

Dear Colleagues,

Alternative splicing, first proposed by Gilbert in 1978, allows multi-exon genes to produce multiple splice variants. Several of the linear transcripts encode protein isoforms with distinct amino acid sequence, structure, and function(s). Alternatively spliced transcripts are generated from a single gene through selection of cassette exons, mutually exclusive exons, retained introns, alternative 3′ or 5′ splice sites, and/or usage of alternative promoters or polyadenylation sites. High-throughput sequencing has revolutionized transcriptomics, revealing that the post-transcriptional maturation of primary transcripts from more than 95% of human multi-exon genes involves alternative splicing. Examples of hundreds of alternative splicing events from a single gene have also been described. Besides linear transcripts, splicing generates also circular RNAs (circRNAs). They were initially discovered in RNA viroid analysis during the 1970s but were characterized as by-products of alternative splicing.

Alternative splice variants may contribute to the etiology of many human diseases, including cancer, since protein isoforms that arise by translation of splice variants often contain additional functional domains or lack some of the structural motifs of the classical protein isoform and consequently acquire new properties or are deprived of some of them, respectively. Furthermore, circRNAs—a neglected RNA type that derives from back-splicing—have been shown to play a pivotal role in the initiation and progression of cancer. From a clinical aspect, alternatively spliced linear and circular transcripts are highly important in oncology, as they may constitute promising drug targets or serve as molecular biomarkers for cancer diagnosis and/or prognosis.

This Special Issue aims to provide information to the readers regarding the mechanisms and/or products of alternative splicing in human physiological and pathological states, with emphasis on cancer, neurodegenerative diseases, and other diseases. Authors are encouraged to submit their original research studies concerning this topic. Review articles will also be taken into consideration. The Guest Editors are also willing to evaluate manuscripts describing other aspects of alternative splicing proposed by the authors. We hope that this Special Issue regarding the identity, biological role, and/or clinical utility of alternatively spliced linear and circular transcripts of human genes will attract the interest of the readers of this journal.

Dr. Christos K. Kontos
Dr. Pinelopi I. Artemaki
Guest Editors

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