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U.S. Department of Health and Human Services

Scientific Publications by FDA Staff

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Nat Rev Genet 2011 Oct;12(10):683-91

Understanding the contribution of synonymous mutations to human disease.

Sauna ZE, Kimchi-Sarfaty C


Synonymous mutations - sometimes called 'silent' mutations - are now widely acknowledged to be able to cause changes in protein expression, conformation and function. The recent increase in knowledge about the association of genetic variants with disease, particularly through genome-wide association studies, has revealed a substantial contribution of synonymous SNPs to human disease risk and other complex traits. Here we review current understanding of the extent to which synonymous mutations influence disease, the various molecular mechanisms that underlie these effects and the implications for future research and biomedical applications.

Category: Journal Article, Review
PubMed ID: #21878961 DOI: 10.1038/nrg3051
Includes FDA Authors from Scientific Area(s): Biologics
Entry Created: 2011-10-03 Entry Last Modified: 2012-08-29