Journal
EMBO REPORTS
Volume 16, Issue 12, Pages 1640-1655Publisher
WILEY
DOI: 10.15252/embr.201541116
Keywords
alternative splicing; disease; mutation; RNA; spliceosome
Categories
Funding
- Fundacion Botin, Banco de Santander through its Santander Universities Global Division
- Consolider RNAREG
- Ministerio de Economia y Competitividad
- AGAUR
- Marie Sklodowska Curie Fellowship Program
- ICREA Funding Source: Custom
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Removal of introns from pre-mRNA precursors (pre-mRNA splicing) is a necessary step for the expression of most genes in multicellular organisms, and alternative patterns of intron removal diversify and regulate the output of genomic information. Mutation or natural variation in pre-mRNA sequences, as well as in spliceosomal components and regulatory factors, has been implicated in the etiology and progression of numerous pathologies. These range from monogenic to multifactorial genetic diseases, including metabolic syndromes, muscular dystrophies, neurodegenerative and cardiovascular diseases, and cancer. Understanding the molecular mechanisms associated with splicing-related pathologies can provide key insights into the normal function and physiological context of the complex splicing machinery and establish sound basis for novel therapeutic approaches.
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