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Status |
Public on May 08, 2020 |
Title |
Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford Progeria Syndrome (ATAC-Seq) |
Organism |
Homo sapiens |
Experiment type |
Genome binding/occupancy profiling by high throughput sequencing
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Summary |
Hutchinson-Gilford Progeria Syndrome (HGPS) is a progeroid disease characterized by the early onset of some classically age-related phenotypes including arthritis, loss of body fat and hair and atherosclerosis. Cells from affected individuals express a mutant version of the nuclear envelope protein Lamin A (termed Progerin) and have previously been shown to exhibit prominent chromatin changes. Here, we identify epigenetic deregulation of lamina-associated domains (LADs) as a central feature in the molecular pathology of HGPS. Using ATAC-see/-seq and Infinium MethylationEPIC BeadChip-mediated DNA methylation profiling, we demonstrate that dermal fibroblasts from HGPS patients exhibit both chromatin accessibility and DNA methylation changes that are enriched in LADs. Importantly, we further show that these epigenetic alterations are associated with HGPS-specific gene expression changes. Together, our results establish a central involvement of LADs in the epigenetic deregulation of HGPS and provide novel insight into the molecular changes associated with the disease.
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Overall design |
Open chromatin analysis of H. sapiens using fibroblasts from six HGPS patients and two controls.
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Contributor(s) |
Lyko F, Rodriguez Paredes M |
Citation(s) |
32450911 |
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Submission date |
May 08, 2020 |
Last update date |
Jun 02, 2020 |
Contact name |
Guenter Raddatz |
Organization name |
German Center for Cancer Research
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Street address |
Im Neuenheimer Feld 580
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City |
Heidelberg |
ZIP/Postal code |
69120 |
Country |
Germany |
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Platforms (1) |
GPL20301 |
Illumina HiSeq 4000 (Homo sapiens) |
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Samples (8)
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This SubSeries is part of SuperSeries: |
GSE150138 |
Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford Progeria Syndrome |
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Relations |
BioProject |
PRJNA631249 |
SRA |
SRP260804 |