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The pathogenicity of splicing defects: mechanistic insights into pre‐ mRNA processing inform novel therapeutic approaches
Author(s) -
Daguenet Elisabeth,
Dujardin Gwendal,
Valcárcel Juan
Publication year - 2015
Publication title -
embo reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.584
H-Index - 184
eISSN - 1469-3178
pISSN - 1469-221X
DOI - 10.15252/embr.201541116
Subject(s) - rna splicing , computational biology , pathogenicity , biology , messenger rna , genetics , microbiology and biotechnology , gene , rna
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.