Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia
- 1 July 2003
- journal article
- review article
- Published by S. Karger AG in Cytogenetic and Genome Research
- Vol. 100 (1-4) , 65-76
- https://doi.org/10.1159/000072839
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.Keywords
This publication has 59 references indexed in Scilit:
- Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activatorJournal of Human Genetics, 2001
- Cation-Dependent Conformational Switches in d-TGGCGGC Containing Two Triplet Repeats of Fragile X Syndrome: NMR ObservationsBiochemical and Biophysical Research Communications, 2000
- Cytosine methylation of an Sp1 site contributes to organ-specific and cell-specific regulation of expression of the lung epithelial gene T1αBiochemical Journal, 2000
- Long CCG Triplet Repeat Blocks Exclude Nucleosomes: A Possible Mechanism for the Nature of Fragile Sites in ChromosomesJournal of Molecular Biology, 1996
- Solution Structure of a DNA Quadruplex Containing the Fragile X Syndrome Triplet RepeatJournal of Molecular Biology, 1995
- Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndromeNature Genetics, 1995
- A point mutation in the FMR-1 gene associated with fragile X mental retardationNature Genetics, 1993
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Absence of expression of the FMR-1 gene in fragile X syndromeCell, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991