title: mRNA Metabolism and hereditary disorders: a tale of surveillance and escape.
abstract: The exploration of the molecular origin of hereditary diseases focused on genes and proteins for many years. Recently, mRNA has gained increasing attention. Most human genes contain introns and a considerable proportion of transcripts are not only alternatively spliced but also regulated posttranscriptionally in manifold ways. mRNA processing as well as a complex network of interactions between the steps of gene expression and associated quality control mechanisms are guided by a multitude of regulative mRNA sequence elements. Therefore it is not surprising that mutations of such elements can cause or modify human disease. The purpose of this review is the illustration of principles of physiological and dysregulated mRNA metabolism as well as a survey of new analytical tools and therapeutic approaches.
authors.affiliation: Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany. gabyneu-yilik@med.uni-heidelberg.de
authors.forename: G
authors.initials: G
authors.lastname: Neu-Yilik
authors.forename: A E
authors.initials: AE
authors.lastname: Kulozik
mesh_terms: D001483:Base Sequence; D005091:Exons; D005260:Female; D015870:Gene Expression; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007438:Introns; D008297:Male; D046228:Microarray Analysis; D009154:Mutation; D017354:Point Mutation; D012333:RNA, Messenger / Q000378:metabolism*; D014158:Transcription, Genetic
chemical_list: D012333:RNA, Messenger