title: Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia.
abstract: Fragile X mental retardation syndrome, FRAXE mental retardation, Progressive myoclonus epilepsy Type I, and Friedreich ataxia are members of a larger group of genetic disorders known as the Repeat Expansion Diseases. Unlike other members of this group, these four disorders all result from a primary defect in the initiation or elongation of transcription. In this review, we discuss current models for the relationship between the expanded repeat and the disease symptoms.
authors.affiliation: Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA.
authors.forename: E
authors.initials: E
authors.lastname: Greene
authors.forename: V
authors.initials: V
authors.lastname: Handa
authors.forename: D
authors.initials: D
authors.lastname: Kumari
authors.forename: K
authors.initials: K
authors.lastname: Usdin
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005600:Fragile X Syndrome / Q000235:genetics / Q000473:pathology; D005621:Friedreich Ataxia / Q000235:genetics / Q000473:pathology; D005786:Gene Expression Regulation; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics / Q000473:pathology; D008954:Models, Biological; D009154:Mutation; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics / Q000473:pathology; D009690:Nucleic Acid Conformation; D014158:Transcription, Genetic / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D004247:DNA