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How do synonymous mutations affect fitness?
Author(s) -
Parmley Joanna L.,
Hurst Laurence D.
Publication year - 2007
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.20592
Subject(s) - genetics , biology , rna splicing , synonymous substitution , mutation , affect (linguistics) , translational efficiency , silent mutation , messenger rna , gene , translation (biology) , rna , codon usage bias , psychology , genome , communication , missense mutation
Abstract While it has often been assumed that, in humans, synonymous mutations would have no effect on fitness, let alone cause disease, this position has been questioned over the last decade. There is now considerable evidence that such mutations can, for example, disrupt splicing and interfere with miRNA binding. Two recent publications suggest involvement of additional mechanisms: modification of protein abundance most probably mediated by alteration in mRNA stability1 and modification of protein structure and activity,2 probably mediated by induction of translational pausing. These case histories put a further nail into the coffin of the assumption that synonymous mutations must be neutral. BioEssays 29:515–519, 2007. © 2007 Wiley Periodicals, Inc.