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Alternative Splicing in Human Biology and Disease

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Alternative Splicing

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2537))

Abstract

Alternative pre-mRNA splicing allows for the production of multiple mRNAs from an individual gene, which not only expands the protein-coding potential of the genome but also enables complex mechanisms for the post-transcriptional control of gene expression. Regulation of alternative splicing entails a combinatorial interplay between an abundance of trans-acting splicing factors, cis-acting regulatory sequence elements and their concerted effects on the core splicing machinery. Given the extent and biological significance of alternative splicing in humans, it is not surprising that aberrant splicing patterns can cause or contribute to a wide range of diseases. In this introductory chapter, we outline the mechanisms that govern alternative pre-mRNA splicing and its regulation and discuss how dysregulated splicing contributes to human diseases affecting the motor system and the brain.

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Acknowledgments

This work was supported by the UK Dementia Research Institute which receives its funding from UK DRI Ltd., funded by the Medical Research Council, Alzheimer’s Society, and Alzheimer’s Research UK.

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  1. United Kingdom Dementia Research Institute Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, Maurice Wohl Clinical Neuroscience Institute, London, UK

    Daniel Jutzi & Marc-David Ruepp

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  1. Daniel Jutzi
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  2. Marc-David Ruepp
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Correspondence to Daniel Jutzi or Marc-David Ruepp .

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  1. Biozentrum, University of Basel, Basel, Switzerland

    Peter Scheiffele

  2. Biozentrum, University of Basel, Basel, Switzerland

    Oriane Mauger

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Jutzi, D., Ruepp, MD. (2022). Alternative Splicing in Human Biology and Disease. In: Scheiffele, P., Mauger, O. (eds) Alternative Splicing. Methods in Molecular Biology, vol 2537. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2521-7_1

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  • DOI: https://doi.org/10.1007/978-1-0716-2521-7_1

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