title: RNA surveillance: molecular approaches in transcript quality control and their implications in clinical diseases.
abstract: Production of mature mRNAs that encode functional proteins involves highly complex pathways of synthesis, processing and surveillance. At numerous steps during the maturation process, the mRNA transcript undergoes scrutiny by cellular quality control machinery. This extensive RNA surveillance ensures that only correctly processed mature mRNAs are translated and precludes production of aberrant transcripts that could encode mutant or possibly deleterious proteins. Recent advances in elucidating the molecular mechanisms of mRNA processing have demonstrated the existence of an integrated network of events, and have revealed that a variety of human diseases are caused by disturbances in the well-coordinated molecular equilibrium of these events. From a medical perspective, both loss and gain of function are relevant, and a considerable number of different diseases exemplify the importance of the mechanistic function of RNA surveillance in a cell. Here, mechanistic hallmarks of mRNA processing steps are reviewed, highlighting the medical relevance of their deregulation and how the understanding of such mechanisms can contribute to the development of therapeutic strategies.
authors.affiliation: Molecular Biology Laboratory, IP&D, Universidade do Vale do Paraíba, São José dos Campos, São Paulo, CEP-12244-000, Brazil. KarenMoraes_33@hotmail.com
authors.forename: Karen C M
authors.initials: KC
authors.lastname: Moraes
mesh_terms: D000818:Animals; D004194:Disease / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D053858:Metabolic Networks and Pathways; D012333:RNA, Messenger / Q000502:physiology*; D015398:Signal Transduction
chemical_list: D012333:RNA, Messenger