The splicing machinery is a genetic modifier of disease severity

Malka Nissim-Rafinia, Batsheva Kerem*

*Corresponding author for this work

Research output: Contribution to journalShort surveypeer-review

65 Scopus citations


Disease severity correlates with the level of correctly spliced RNA transcribed from genes carrying splicing mutations and with the ratio of alternatively spliced isoforms. Hence, a role for splicing regulation as a genetic modifier has been suggested. Here we discuss recent experiments that provide direct evidence that changes in the level of splicing factors modulate the splicing pattern of disease-associated genes. Importantly, modulation of the splicing pattern led to regulation of the protein function and modification of disease severity.

Original languageAmerican English
Pages (from-to)480-483
Number of pages4
JournalTrends in Genetics
Issue number9
StatePublished - Sep 2005


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