Abstract
Reduced expression of the mitochondrial protein Frataxin (FXN) is the underlying cause of Friedreich's ataxia. We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation as a novel mechanism of transcriptional repression in Friedreich's ataxia.
Original language | English (US) |
---|---|
Pages (from-to) | 33-36 |
Number of pages | 4 |
Journal | Transcription |
Volume | 6 |
Issue number | 2 |
DOIs | |
State | Published - Mar 15 2015 |
Externally published | Yes |
Keywords
- Friedreich's ataxia
- GAA repeats
- R-loops
- antisense transcription
- repeat expansion diseases
- transcription termination
ASJC Scopus subject areas
- Biotechnology
- Biochemistry
- Genetics