Splicing regulation as a potential genetic modifier

Malka Nissim-Rafinia, Batsheva Kerem*

*Corresponding author for this work

Research output: Contribution to journalComment/debate

183 Scopus citations


Inherited diseases are associated with profound phenotypic variability, which is affected strongly by genetic modifiers. The splicing machinery could be one such modifying system, through a mechanism involving splicing motifs and their interaction with a complex repertoire of splicing factors. Mutations in splicing motifs and changes in levels of splicing factors can result in different splicing patterns. Changes in the level of normal transcripts or in the relative pattern of different mRNA isoforms affect disease expression, leading to phenotypic variability. Here, we discuss the splicing machinery in terms of its significance in disease severity and its potential role as a genetic modifier.

Original languageAmerican English
Pages (from-to)123-127
Number of pages5
JournalTrends in Genetics
Issue number3
StatePublished - 1 Mar 2002


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