Journal
JOURNAL OF INTERNAL MEDICINE
Volume 276, Issue 3, Pages 201-214Publisher
WILEY
DOI: 10.1111/joim.12231
Keywords
chromatin; DNA methylation; epigenetics; histone; transcription
Categories
Funding
- Swedish Cancer Society [CAN 2012/238]
- Swedish Research Council [VR-M 2579, VR-NT 4448]
Ask authors/readers for more resources
The organization of the genome into functional units, such as enhancers and active or repressed promoters, is associated with distinct patterns of DNA and histone modifications. The Encyclopedia of DNA Elements (ENCODE) project has advanced our understanding of the principles of genome, epigenome and chromatin organization, identifying hundreds of thousands of potential regulatory regions and transcription factor binding sites. Part of the ENCODE consortium, GENCODE, has annotated the human genome with novel transcripts including new noncoding RNAs and pseudogenes, highlighting transcriptional complexity. Many disease variants identified in genome-wide association studies are located within putative enhancer regions defined by the ENCODE project. Understanding the principles of chromatin and epigenome organization will help to identify new disease mechanisms, biomarkers and drug targets, particularly as ongoing epigenome mapping projects generate data for primary human cell types that play important roles in disease.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available