|
| Status |
Public on Oct 24, 2020 |
| Title |
Rare genetic variation at transcription factor binding site modulates local DNA methylation profiles |
| Organism |
Homo sapiens |
| Experiment type |
Methylation profiling by array
|
| Summary |
Recently, it has been proposed that local DNA methylation profiles might be dictated by cis-regulatory DNA sequences that mainly operate via DNA-binding factors. Combining blood genome-wide DNA methylation profiles (Illumina Infinium MethylationEPIC BeadChiP), whole genome sequencing-derived single nucleotide variants (SNVs) along with predicted transcription factor binding site (TFBS), we were able to observe that rare regulatory variants, i.e, SNVs that disrupt TFBSs, are associated with DNA methylation at both local and, to a lesser extent, broader locations. Interestingly, we also observed that this directed DNA methylation can have consequences on genome regulation by altering expression levels of nearby genes.
|
| |
|
| Overall design |
About 500ng of genomic DNA was bisulfite-converted and analyzed for genome-wide methylation patterns using the Infinium MethylationEPIC BeadChiP platform at the New York Genome Center (New York, USA), according the manufacturer's recommendation for Illumina Infinium Assay.
All samples are from individuals with congenital heart defects.
Contributor: Pediatric Cardiac Genomics Consortium (PCGC)
|
| |
|
| Contributor(s) |
Sharp AJ, Wagner M |
| Citation(s) |
33216750 |
| |
| Submission date |
Oct 23, 2020 |
| Last update date |
Nov 24, 2020 |
| Contact name |
Alejandro Martin Trujillo |
| E-mail(s) |
alejandro.martintrujillo@mssm.edu
|
| Organization name |
Icahn school of medicine at mount sinai hospital
|
| Street address |
Hess Center for Science and Medicine at Mount Sinai,1470 Madison Avenue, 8th Floor
|
| City |
New York |
| ZIP/Postal code |
10029 |
| Country |
USA |
| |
|
| Platforms (1) |
|
| Samples (267)
|
|
| Relations |
| BioProject |
PRJNA670916 |
Less...
More...