Defects in pre-mRNA processing as causes of and predisposition to diseases

Peter Stoilov, Eran Meshorer, Marieta Gencheva, David Glick, Hermona Soreq, Stefan Stamm*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

71 Scopus citations


Humans possess a surprisingly low number of genes and intensively use pre-mRNA splicing to achieve the high molecular complexity needed to sustain normal body functions and facilitate responses to altered conditions. Because hundreds of thousands of proteins are generated by 25,000 to 40,000 genes, pre-mRNA processing events are highly important for the regulation of human gene expression. Both inherited and acquired defects in pre-mRNA processing are increasingly recognized as causes of human diseases, and almost all premRNA processing events are controlled by a combination of protein factors. This makes defects in these processes likely candidates for causes of diseases with complicated inheritance patterns that affect seemingly unrelated functions. The elucidation of genetic mechanisms regulating pre-mRNA processing, combined with the development of drugs targeted at consensus RNA sequences and/or corresponding proteins, can lead to novel diagnostic and therapeutic approaches.

Original languageAmerican English
Pages (from-to)803-818
Number of pages16
JournalDNA and Cell Biology
Issue number11
StatePublished - 2002


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