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In Brief: (Mis)splicing in disease
Author(s) -
Pedrotti Simona,
Cooper Thomas A
Publication year - 2014
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.4337
Subject(s) - spliceosome , rna splicing , gene , biology , alternative splicing , disease , pathogenesis , genetics , computational biology , bioinformatics , rna , messenger rna , medicine , immunology , pathology
Splicing of pre‐ mRNAs is a crucial step in the gene expression pathway. Disruption of splicing has been linked to the pathogenesis of several human diseases and is particularly widespread in cancer. Recently, a number of mutations affecting genes of the core spliceosome machinery have been identified in haematological malignancies, yet the effect of such mutations on RNA splicing is unclear. A better understanding of how mis‐splicing contributes to malignancies may provide diagnostic or prognostic information and new drug targets for therapeutic approaches. Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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