title: Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.
abstract: RNA-binding proteins (RBPs) are effectors and regulators of posttranscriptional gene regulation (PTGR). RBPs regulate stability, maturation, and turnover of all RNAs, often binding thousands of targets at many sites. The importance of RBPs is underscored by their dysregulation or mutations causing a variety of developmental and neurological diseases. This chapter globally discusses human RBPs and provides a brief introduction to their identification and RNA targets. We review RBPs based on common structural RNA-binding domains, study their evolutionary conservation and expression, and summarize disease associations of different RBP classes.
authors.affiliation: Howard Hughes Medical Institute and Laboratory for RNA Molecular Biology, The Rockefeller University, 1230 York Ave, 10065, New York, NY, USA.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Gerstberger
authors.forename: Markus
authors.initials: M
authors.lastname: Hafner
authors.forename: Manuel
authors.initials: M
authors.lastname: Ascano
authors.forename: Thomas
authors.initials: T
authors.lastname: Tuschl
mesh_terms: D019143:Evolution, Molecular; D005786:Gene Expression Regulation / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism*
chemical_list: D016601:RNA-Binding Proteins