The sound of silence

摘要

Because of the structure of the genetic code, many mutations in genes will not obviously affect the resultant protein and are hence considered 'silent'. If they don't affect the protein, silent mutations cannot cause genetic disease. Or can they? There is evidence for a variety of mechanisms~1 whereby these apparently innocuous mutations can be harmful, if not lethal. In a paper in Nature Genetics, Brest and colleagues~2 provide evidence of an example of disruption in which a silent mutation affects the regulation, through microRNA, of the process of making the protein.