| Title |
Friedreich Ataxia Patient Tissues Exhibit Increased 5-Hydroxymethylcytosine Modification and Decreased CTCF Binding at the FXN Locus
|
|---|---|
| Published in |
PLOS ONE, September 2013
|
| DOI | 10.1371/journal.pone.0074956 |
| Pubmed ID | |
| Authors |
Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A. Pook |
| Abstract |
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, which induces epigenetic changes and FXN gene silencing. Bisulfite sequencing studies have identified 5-methylcytosine (5 mC) DNA methylation as one of the epigenetic changes that may be involved in this process. However, analysis of samples by bisulfite sequencing is a time-consuming procedure. In addition, it has recently been shown that 5-hydroxymethylcytosine (5 hmC) is also present in mammalian DNA, and bisulfite sequencing cannot distinguish between 5 hmC and 5 mC. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 82 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 1% |
| Unknown | 81 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 10 | 12% |
| Researcher | 7 | 9% |
| Student > Master | 6 | 7% |
| Student > Doctoral Student | 5 | 6% |
| Student > Bachelor | 4 | 5% |
| Other | 8 | 10% |
| Unknown | 42 | 51% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 16 | 20% |
| Biochemistry, Genetics and Molecular Biology | 12 | 15% |
| Medicine and Dentistry | 4 | 5% |
| Neuroscience | 3 | 4% |
| Business, Management and Accounting | 2 | 2% |
| Other | 2 | 2% |
| Unknown | 43 | 52% |