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Nat Rev Genet. 2002 Apr;3(4):285-98.

Listening to silence and understanding nonsense: exonic mutations that affect splicing.

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  • 1Cold Spring Harbor Laboratory, PO Box 100, Cold Spring Harbor, New York 11724, USA.


Point mutations in the coding regions of genes are commonly assumed to exert their effects by altering single amino acids in the encoded proteins. However, there is increasing evidence that many human disease genes harbour exonic mutations that affect pre-mRNA splicing. Nonsense, missense and even translationally silent mutations can inactivate genes by inducing the splicing machinery to skip the mutant exons. Similarly, coding-region single-nucleotide polymorphisms might cause phenotypic variability by influencing splicing accuracy or efficiency. As the splicing mechanisms that depend on exonic signals are elucidated, new therapeutic approaches to treating certain genetic diseases can begin to be explored.

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