title: The roles of RNA processing in translating genotype to phenotype.
abstract: A goal of human genetics studies is to determine the mechanisms by which genetic variation produces phenotypic differences that affect human health. Efforts in this respect have previously focused on genetic variants that affect mRNA levels by altering epigenetic and transcriptional regulation. Recent studies show that genetic variants that affect RNA processing are at least equally as common as, and are largely independent from, those variants that affect transcription. We highlight the impact of genetic variation on pre-mRNA splicing and polyadenylation, and on the stability, translation and structure of mRNAs as mechanisms that produce phenotypic traits. These results emphasize the importance of including RNA processing signals in analyses to identify functional variants.
authors.affiliation: Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas 77030, USA.|Integrative Molecular and Biomedical Sciences Program, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Kassie S
authors.initials: KS
authors.lastname: Manning
authors.affiliation: Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas 77030, USA.|Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA.|Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas 77030, USA.|Integrative Molecular and Biomedical Sciences Program, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Cooper
mesh_terms: D005786:Gene Expression Regulation; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006207:Half-Life; D006801:Humans; D035683:MicroRNAs; D026723:Polyadenylation; D012322:RNA Precursors / Q000235:genetics; D012323:RNA Processing, Post-Transcriptional; D012326:RNA Splicing; D020871:RNA Stability
chemical_list: D035683:MicroRNAs; D012322:RNA Precursors