Understanding the contribution of synonymous mutations to human disease
Top Cited Papers
- 31 August 2011
- journal article
- review article
- Published by Springer Science and Business Media LLC in Nature Reviews Genetics
- Vol. 12 (10), 683-691
- https://doi.org/10.1038/nrg3051
Abstract
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.Keywords
This publication has 93 references indexed in Scilit:
- Birth, life and death of nascent polypeptide chainsBiotechnology Journal, 2011
- Signatures of protein biophysics in coding sequence evolutionCurrent Opinion in Structural Biology, 2010
- Gene optimization mechanisms: A multi‐gene study reveals a high success rate of full‐length human proteins expressed in Escherichia coliProtein Science, 2010
- Functional Analysis of Human tRNA IsodecodersJournal of Molecular Biology, 2010
- Sequence signatures and mRNA concentration can explain two‐thirds of protein abundance variation in a human cell lineMolecular Systems Biology, 2010
- Differential Involvement of P-Glycoprotein (ABCB1) in Permeability, Tissue Distribution, and Antinociceptive Activity of Methadone, Buprenorphine, and Diprenorphine: In Vitro and In Vivo EvaluationJournal of Pharmaceutical Sciences, 2009
- Synonymous Mutations and Ribosome Stalling Can Lead to Altered Folding Pathways and Distinct MinimaJournal of Molecular Biology, 2008
- Mistranslation-Induced Protein Misfolding as a Dominant Constraint on Coding-Sequence EvolutionCell, 2008
- tRNA's modifications bring order to gene expressionCurrent Opinion in Microbiology, 2008
- Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular AtrophyAmerican Journal of Human Genetics, 2008