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Related Concept Videos

Determination01:51

Determination

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During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. Specification is demonstrated by removing a segment of an early embryo, “neutrally” culturing the tissue in vitro—for example, in a petri dish with simple medium—and then observing the derivatives. If the cultured region gives rise to cell types that it would normally generate in the embryo, this means that it is specified. In...
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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
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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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Master Transcription Regulators

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Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
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Related Experiment Video

Updated: Jul 24, 2025

A Rapid In Vivo Bioassay for Developmentally Active Enhancers
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Cell Type- and Tissue-specific Enhancers in Craniofacial Development.

Sudha Sunil Rajderkar1, Kitt Paraiso1, Maria Luisa Amaral2

  • 1Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA.

Biorxiv : the Preprint Server for Biology
|July 10, 2023
PubMed
Summary
This summary is machine-generated.

Researchers mapped thousands of human craniofacial enhancers, revealing their roles in facial development. This resource aids genetic studies of birth defects and facial variation by detailing enhancer activity across cell types and developmental stages.

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Area of Science:

  • Genomics and Developmental Biology
  • Investigates the genetic underpinnings of human craniofacial development and variation.

Background:

  • The genetic basis of craniofacial birth defects and facial shape variation is poorly understood.
  • Distant-acting transcriptional enhancers regulate gene expression during craniofacial development, but their precise locations and activities are not well-mapped.
  • Accurate maps are needed for systematic exploration in human genetics.

Approach:

  • Combined histone modification and chromatin accessibility profiling across human craniofacial development stages (weeks 4-8).
  • Integrated single-cell analyses (RNA-seq, ATAC-seq) of developing mouse craniofacial tissues (e11.5-e15.5).
  • Created a comprehensive catalogue of regulatory elements at tissue and single-cell resolution.

Key Points:

  • Identified approximately 14,000 enhancers across seven human embryonic developmental stages.
  • Validated 16 human enhancers using transgenic mouse reporter assays, showing diverse craniofacial activity patterns.
  • Found 56% of human craniofacial enhancers are functionally conserved in mice, providing cell type- and stage-resolved activity predictions.

Conclusions:

  • Developed a comprehensive resource for studying the regulatory landscape of human facial development.
  • Demonstrated the utility of the data for predicting enhancer cell type specificity.
  • Provides an expansive resource for genetic and developmental studies of craniofacial anomalies.