title: RNA toxicity and foci formation in microsatellite expansion diseases.
abstract: More than 30 incurable neurological and neuromuscular diseases are caused by simple microsatellite expansions consisted of 3-6 nucleotides. These repeats can occur in non-coding regions and often result in a dominantly inherited disease phenotype that is characteristic of a toxic RNA gain-of-function. The expanded RNA adopts unusual secondary structures, sequesters various RNA binding proteins to form insoluble nuclear foci, and causes cellular defects at a multisystem level. Nuclear foci are dynamic in size, shape and colocalization of RNA binding proteins in different expansion diseases and tissue types. This review sets to provide new insights into the disease mechanisms of RNA toxicity and foci modulation, in light of recent advancement on bi-directional transcription, antisense RNA, repeat-associated non-ATG translation and beyond.
authors.affiliation: Neurosciences Research Program, Houston Methodist Research Institute, Houston, TX 77030, United States; Division of Cell and Molecular Biology, South Kensington Campus, Imperial College London, London SW7 2AZ, UK.
authors.forename: Nan
authors.initials: N
authors.lastname: Zhang
authors.affiliation: Neurosciences Research Program, Houston Methodist Research Institute, Houston, TX 77030, United States. Electronic address: tashizawa@houstonmethodist.org.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
mesh_terms: D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology; D009690:Nucleic Acid Conformation; D012313:RNA / Q000737:chemistry / Q000235:genetics*; D016372:RNA, Antisense / Q000737:chemistry / Q000235:genetics; D016601:RNA-Binding Proteins / Q000737:chemistry / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D016372:RNA, Antisense; D016601:RNA-Binding Proteins; D012313:RNA