Unstable repeats in DNA, RNA proteins, and human disease.

Disease-associated repeat sequence can include microsatellites (1–4 bp unit), minisatellites (6–64 bp unit), and megasatellites (several kb unit). GOF, gain-of-function; LOF, loss of function; RNA, toxic RNA. XXas or XXos = XX antisense or XX opposite strand. RAN, repeat associated non-ATG translation. Information for the columns: Disorder, Gene, and Locus derived from Online Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/); McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD); and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). Repeat, Repeat size, Pathogenesis and Bi-directional transcription from López Castel et al. [1].