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Related Concept Videos

Epigenetic Regulation01:37

Epigenetic Regulation

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
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Cell Specific Gene Expression01:58

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
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Proteins that regulate transcription can do so either via direct contact with RNA Polymerase or through indirect interactions facilitated by adaptors, mediators, histone-modifying proteins, and nucleosome remodelers. Direct interactions to activate transcription is seen in bacteria as well as in some eukaryotic genes. In these cases, upstream activation sequences are adjacent to the promoters, and the activator proteins interact directly with the transcriptional machinery. For example, in...
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When a ligand binds to a cell-surface receptor, the receptor's intracellular domain changes shape, which may either activate its enzyme function or allow its binding to other molecules. The initial signal is amplified by most signal transduction pathways. This means that a single ligand molecule can activate multiple molecules of a downstream target. Proteins that relay a signal are most commonly phosphorylated at one or more sites, activating or inactivating the protein. Kinases catalyze...
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Related Experiment Video

Updated: May 2, 2026

A Web-Based Workflow for Selecting Gene- and Tissue-Specific Enhancers
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Published on: July 18, 2025

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Enhancer biology and enhanceropathies.

Edwin Smith1, Ali Shilatifard1

  • 1Stowers Institute for Medical Research, Kansas City, Missouri, USA.

Nature Structural & Molecular Biology
|March 7, 2014
PubMed
Summary

Enhancers are crucial DNA regions controlling gene expression during development. Mutations in these regulatory elements and their associated factors can lead to human diseases known as enhanceropathies.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Enhancers are cis-regulatory elements controlling gene expression with precise spatiotemporal patterns.
  • They function at distances, bypassing intervening genes, and involve transcription factor binding.
  • Enhancers produce noncoding enhancer RNAs (eRNAs) transcribed by RNA polymerase II (Pol II).

Purpose of the Study:

  • To summarize the characteristics and significance of enhancers in gene regulation.
  • To highlight the role of enhancers in developmental processes.
  • To discuss the implications of enhancer dysfunction in human diseases.

Main Methods:

  • Review of genome-wide analyses identifying enhancer chromatin signatures.
  • Analysis of histone modifications associated with enhancer activity (H3K4me1, H3K27ac/me).

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Author Spotlight: An Integrated Workflow to Study the Promoter-Centric Spatio-Temporal Genome Architecture in Scarce Cell Populations
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  • Examination of developmental transitions of enhancer states (inactive, primed, activated, decommissioned).

    • Main Results:

    • Enhancers are characterized by specific chromatin marks like H3K4me1 and H3K27 acetylation/methylation.
    • These signatures allow tracking enhancer activity transitions during development.
    • Mutations in enhancers and their regulatory factors are linked to various human diseases ('enhanceropathies').

    Conclusions:

    • Enhancers are vital regulatory elements with distinct molecular signatures.
    • Understanding enhancer function and regulation is critical for developmental biology.
    • Dysregulation of enhancers contributes to a growing number of human genetic disorders.