Insight into how the mammalian genome is structured in vivo is key to understanding transcriptional regulation. This is especially true in complex domains in which genes are coordinately regulated by long-range interactions between cis-regulatory elements. The regulation of the H19/Igf2 imprinted region depends on the presence of several cis-acting sequences, including a methylation-sensitive i...

Mammalian gene regulation is often mediated by distal enhancer elements, in particular, for tissue specific and developmental genes. Computational identification of enhancers is difficult because they do not exhibit clear location preference relative to their target gene and also because they lack clearly distinguishing genomic features. This represents a major challenge in deciphering transcri...

Enhancer elements regulate the tissue- and developmental-stage-specific expression of genes. Recent estimates suggest that there are more than 50,000 enhancers in mammalian cells. At least a subset of enhancers has been shown to recruit RNA polymerase II transcription complexes and to generate enhancer transcripts. Here, we provide an overview of enhancer function and discuss how transcription ...

23 The FANTOM5 consortium recently characterized 38,554 robust hu24 man enhancers from 808 cell and tissue types using the Cap Analysis of 25 Gene Expression technology. We used the distribution of guanine and 26 cytosine nucleotides at enhancer regions to distinguish two classes of en27 hancers harboring distinct DNA structural properties. A functional anal28 ysis of their predicted gene targe...

BACKGROUND Enhancers are tissue specific distal regulation elements, playing vital roles in gene regulation and expression. The prediction and identification of enhancers are important but challenging issues for bioinformatics studies. Existing computational methods, mostly single classifiers, can only predict the transcriptional coactivator EP300 based enhancers and show low generalization per...

Epigenetic and transcriptional alterations are both implicated in Huntington's disease (HD), a progressive neurodegenerative disease resulting in degeneration of striatal neurons in the brain. However, how impaired epigenetic regulation leads to transcriptional dysregulation in HD is unclear. Here, we investigated enhancer RNAs (eRNAs), a class of long non-coding RNAs transcribed from active en...

Enhancers: Transcriptional enhancers are DNA sequences that control expression of nearby genes and direct tissue-specific, positive regulation of those genes (Walker & Rapley,1997; also, any contemporary genetics or cell biology textbook). The general mode of action of these sequences is that they associate with specific activator proteins (that are found in only certain tissues); this associat...

Gene regulatory programs in different cell types are largely defined through cell-specific enhancers activity. The histone variant H2A.Z has been shown to play important roles in transcription mainly by controlling proximal promoters, but its effect on enhancer functions remains unclear. Here, we demonstrate by genome-wide approaches that H2A.Z is present at a subset of active enhancers bound b...

Accurately predicting regulatory sequences and enhancers in entire genomes is an important but difficult problem, especially in large vertebrate genomes. With the advent of ChIP-seq technology, experimental detection of genome-wide EP300/CREBBP bound regions provides a powerful platform to develop predictive tools for regulatory sequences and to study their sequence properties. Here, we develop...

Super-enhancers are clusters of transcriptional enhancers that drive cell-type-specific gene expression and are crucial to cell identity. Many disease-associated sequence variations are enriched in super-enhancer regions of disease-relevant cell types. Thus, super-enhancers can be used as potential biomarkers for disease diagnosis and therapeutics. Current studies have identified super-enhancer...