title: The roles of the exoribonucleases DIS3L2 and XRN1 in human disease.
abstract: RNA degradation is a vital post-transcriptional process which ensures that transcripts are maintained at the correct level within the cell. DIS3L2 and XRN1 are conserved exoribonucleases that are critical for the degradation of cytoplasmic RNAs. Although the molecular mechanisms of RNA degradation by DIS3L2 and XRN1 have been well studied, less is known about their specific roles in the development of multicellular organisms or human disease. This review focusses on the roles of DIS3L2 and XRN1 in the pathogenesis of human disease, particularly in relation to phenotypes seen in model organisms. The known diseases associated with loss of activity of DIS3L2 and XRN1 are discussed, together with possible mechanisms and cellular pathways leading to these disease conditions.
authors.affiliation: Brighton and Sussex Medical School, University of Sussex, Medical Research Building, Falmer, Brighton BN1 9PS, U.K.
authors.forename: Amy L
authors.initials: AL
authors.lastname: Pashler
authors.affiliation: Brighton and Sussex Medical School, University of Sussex, Medical Research Building, Falmer, Brighton BN1 9PS, U.K.
authors.forename: Benjamin P
authors.initials: BP
authors.lastname: Towler
authors.affiliation: Brighton and Sussex Medical School, Department of Primary Care and Public Health, University of Brighton, Falmer, Brighton BN1 9PH, U.K.
authors.forename: Christopher I
authors.initials: CI
authors.lastname: Jones
authors.affiliation: Brighton and Sussex Medical School, University of Sussex, Medical Research Building, Falmer, Brighton BN1 9PS, U.K.
authors.forename: Sarah F
authors.initials: SF
authors.lastname: Newbury
mesh_terms: D003593:Cytoplasm / Q000378:metabolism; D004194:Disease; D005095:Exoribonucleases / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics / Q000378:metabolism*; D008957:Models, Genetic; D012313:RNA / Q000235:genetics / Q000378:metabolism*; D020871:RNA Stability; D015398:Signal Transduction / Q000235:genetics
chemical_list: D008869:Microtubule-Associated Proteins; D012313:RNA; C571454:DIS3L2 protein, human; D005095:Exoribonucleases; C470512:XRN1 protein, human
keywords: DIS3L2; RNA degradation; XRN1; human disease; mRNA stability; virus–host interactions