Understanding the contribution of synonymous mutations to human disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg3051.pdf
Reference93 articles.
1. Anfinsen, C. B. Principles that govern folding of protein chains. Science 181, 223–230 (1973).
2. Kimura, M. Preponderance of synonymous changes as evidence for neutral theory of molecular evolution. Nature 267, 275–276 (1977).
3. Chamary, J. V., Parmley, J. L. & Hurst, L. D. Hearing silence: non-neutral evolution at synonymous sites in mammals. Nature Rev. Genet. 7, 98–108 (2006). This is an excellent early Review from a molecular evolution perspective that brought the importance of synonymous mutations on human health and disease to a larger audience.
4. Plotkin, J. B. & Kudla, G. Synonymous but not the same: the causes and consequences of codon bias. Nature Rev. Genet. 12, 32–42 (2011). This is a recent Review that explains global patterns in codon bias and how they influence protein folding.
5. Cartegni, L., Chew, S. L. & Krainer, A. R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nature Rev. Genet. 3, 285–298 (2002).
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