Scientists had long assumed that any genetic mutation that does not alter a protein sequence should have no impact on human health. But recent research has shown that such synonymous DNA changes can trigger disease in a number of ways. Alla Katsnelson talks to scientists and biotech companies who are speaking up about 'silent' mutations.
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Kimchi-Sarfaty, C. et al. Science 315, 525–528 (2007).
Nackley, A.G. et al. Science 314, 1930–1933 (2006).
Chen, R., Davydov, E.V., Sirota, M. & Butte, A.J. PLoS ONE 5, e13574 (2010).
Parmley, J.L., Chamary, J.V. & Hurst, L.D. Mol. Biol. Evol. 23, 301–309 (2006).
Sauna, Z.E. & Kimchi-Sarfaty, C. Nat. Rev. Genet. 12, 683–691 (2011).
Brest, P. et al. Nat. Genet. 43, 242–245 (2011).
Bartoszewski, R.A. et al. J Biol. Chem. 285, 28741–28748 (2010).
Kudla, G., Murray, A.W., Tollervey, D. & Plotkin, J.B. Science, 324, 255–258 (2009).
Itakura, K. et al. Science 198, 1056–1063 (1977).
Welch, M. et al. PLoS ONE 4, e7002 (2009).
Fath, S. et al. PLoS ONE 6, e17596 (2011).
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Katsnelson, A. Breaking the silence. Nat Med 17, 1536–1538 (2011). https://doi.org/10.1038/nm1211-1536
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