期刊
CELL STRESS
卷 2, 期 3, 页码 40-54出版社
SHARED SCIENCE PUBLISHERS OG
DOI: 10.15698/cst2018.03.126
关键词
minor spliceosome; pre-mRNA splicing; neurodegeneration; ALS; SMA; FUS; TDP-43
类别
资金
- Caroline Vance (King's College London)
- NOMIS Foundation
- National Centre of Competence in Research (NCCR) RNA and Disease - Swiss National Science Foundation
- Academy of Finland [308657]
- Sigrid Juselius foundation
- MRC [UKDRI-6005] Funding Source: UKRI
- Academy of Finland (AKA) [308657, 308657] Funding Source: Academy of Finland (AKA)
Pre-mRNA splicing is an essential step in eukaryotic gene expression. Mutations in cis-acting sequence elements within pre-mRNA molecules or trans-acting factors involved in pre-mRNA processing have both been linked to splicing dysfunction that give rise to a large number of human diseases. These mutations typically affect the major splicing pathway, which excises more than 99% of all introns in humans. However, approximately 700-800 human introns feature divergent intron consensus sequences at their 5' and 3' ends and are recognized by a separate pre-mRNA processing machinery denoted as the minor spliceosome. This spliceosome has been studied less than its major counterpart, but has received increasing attention during the last few years as a novel pathomechanistic player on the stage in neurodevelopmental and neurodegenerative diseases. Here, we review the current knowledge on minor spliceosome function and discuss its potential pathomechanistic role and impact in neurodegeneration.
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