title: Whisper mutations: cryptic messages within the genetic code.
abstract: Recent years have seen a great expansion in our understandings of how silent mutations can drive a disease and that mRNAs are not only mere messengers between the genome and the encoded proteins but also encompass regulatory activities. This review focuses on how silent mutations within open reading frames can affect the functional properties of the encoded protein. We describe how mRNAs exert control of cell biological processes governed by the encoded proteins via translation kinetics, protein folding, mRNA stability, spatio-temporal protein expression and by direct interactions with cellular factors. These examples illustrate how additional levels of information lie within the coding sequences and that the degenerative genetic code is not redundant and have co-evolved with the encoded proteins. Hence, so called synonymous mutations are not always silent but 'whisper'.
authors.affiliation: Équipe Labellisée Ligue Contre le Cancer, INSERM UMRS1162, Institut de Génétique Moléculaire, Université Paris 7, IUH Hôpital St Louis, Paris, France.|RECAMO, Masaryk Memorial Cancer Institute, Zluty kopec 7, Brno, Czech Republic.
authors.forename: R
authors.initials: R
authors.lastname: Fåhraeus
authors.affiliation: Sección Biquímica, Instituto de Biología, Facultad de Ciencias, Universidad de la República, Montevideo, Uruguay.
authors.forename: M
authors.initials: M
authors.lastname: Marin
authors.affiliation: Instituto de Física, Universidad Autónoma de San Luis Potosí, San Luis Potosí, México.
authors.forename: V
authors.initials: V
authors.lastname: Olivares-Illana
mesh_terms: D003062:Codon / Q000235:genetics*; D005815:Genetic Code / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D009154:Mutation; D016366:Open Reading Frames / Q000235:genetics*; D014176:Protein Biosynthesis / Q000235:genetics; D017510:Protein Folding; D011506:Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D059370:RNA Folding; D020871:RNA Stability / Q000235:genetics; D012333:RNA, Messenger / Q000737:chemistry / Q000235:genetics
chemical_list: D003062:Codon; D011506:Proteins; D012333:RNA, Messenger