TY - CHAP
T1 - Alternative Splicing in Human Biology and Disease
AU - Jutzi, Daniel
AU - Ruepp, Marc David
N1 - Funding Information:
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.
Publisher Copyright:
© 2022, The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
KW - Alternative splicing
KW - Amyotrophic lateral sclerosis
KW - Cis-acting regulatory elements
KW - Frontotemporal dementia with parkinsonism linked to chromosome 17
KW - Myotonic dystrophy type 1
KW - snRNPs
KW - Spinal muscular atrophy
KW - Trans-acting splicing factors
UR - http://www.scopus.com/inward/record.url?scp=85135373043&partnerID=8YFLogxK
U2 - 10.1007/978-1-0716-2521-7_1
DO - 10.1007/978-1-0716-2521-7_1
M3 - Chapter
C2 - 35895255
AN - SCOPUS:85135373043
T3 - Methods in Molecular Biology
SP - 1
EP - 19
BT - Methods in Molecular Biology
PB - Humana Press Inc
ER -