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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.
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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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lncRNA - Long Non-coding RNAs02:39

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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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The eukaryotic promoter region is a segment of DNA located upstream of a gene. It contains an RNA polymerase binding site, a transcription start site, and several cis-regulatory sequences.  The proximal promoter region is located in the vicinity of the gene and has cis-regulatory sequences and the core promoter. The core promoter is the binding site for RNA polymerase and is usually located between -35 and +35 nucleotides from the transcription start site. The distal promoter regions are...
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Related Experiment Video

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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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Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters.

Biola M Javierre1, Oliver S Burren2, Steven P Wilder3

  • 1Nuclear Dynamics Programme, The Babraham Institute, Babraham Research Campus, Cambridge CB22 3AT, UK.

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|November 19, 2016
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Summary

This study maps gene promoter interactions in human blood cells, revealing cell-specific regulatory networks. These findings link genetic variants to diseases, advancing our understanding of genome control.

Keywords:
chromosome conformationdisease gene prioritizationgene regulationnon-coding genetic variationpromoter capture Hi-C

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Area of Science:

  • Genomics
  • Molecular Biology
  • Epigenetics

Background:

  • Long-range interactions between regulatory elements and gene promoters are crucial for transcriptional regulation.
  • Most of these crucial interactions remain uncharacterized, hindering a complete understanding of genome control.

Purpose of the Study:

  • To identify and characterize long-range interactions between gene promoters and regulatory elements in human hematopoietic cells.
  • To investigate the cell type specificity and functional significance of these interactions.
  • To leverage promoter interactomes for disease gene discovery.

Main Methods:

  • Utilized promoter capture Hi-C technology.
  • Analyzed interactions for 31,253 promoters across 17 human primary hematopoietic cell types.

Main Results:

  • Identified extensive, cell type-specific promoter interactions.
  • Demonstrated enrichment of interactions between active promoters and enhancers.
  • Showcased that promoter interactomes mirror hematopoietic lineage relationships.
  • Found enrichment of genetic variants in interacting regions, suggesting functional roles.
  • Connected non-coding disease variants to putative target promoters, identifying candidate disease genes and pathways.

Conclusions:

  • Primary cell promoter interactomes provide critical insights into genomic regulatory mechanisms.
  • This resource is valuable for understanding gene regulation and identifying disease-associated genes.
  • The findings highlight the dynamic nature of nuclear architecture during cell differentiation.