Pre-mRNA missplicing as a cause of human disease.

Tatyana Novoyatleva, Yesheng Tang, Ilona Rafalska, Stefan Stamm

Research output: Contribution to journalReview articlepeer-review

28 Scopus citations


Regulated alternative splice site selection emerges as one of the most important mechanisms to control the expression of genetic information in humans. It is therefore not surprising that a growing number of diseases are either associated with or caused by changes in alternative splicing. These diseases can be caused by mutation in regulatory sequences of the pre-mRNA or by changes in the concentration of trans-acting factors. The pathological expression of mRNA isoforms can be treated by transferring nucleic acids derivatives into cells that interfere with sequence elements on the pre-mRNA, which results in the desired splice site selection. Recently, a growing number of low molecular weight drugs have been discovered that influence splice site selection in vivo. These findings prove the principle that diseases caused by missplicing events could eventually be cured.

Original languageEnglish
Pages (from-to)27-46
Number of pages20
JournalProgress in molecular and subcellular biology
StatePublished - 2006

ASJC Scopus subject areas

  • General Medicine


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