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Related Concept Videos

Chromatin Position Affects Gene Expression02:35

Chromatin Position Affects Gene Expression

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Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
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Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
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Long-range chromatin interactions in pathogenic gene expression control.

Nahyun Kong1, Inkyung Jung1

  • 1Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST) , Daejeon, Republic of Korea.

Transcription
|November 5, 2020
PubMed
Summary
This summary is machine-generated.

Investigating long-range cis-regulatory element (cRE) interactions using 3D chromatin structure analysis is crucial. This approach deciphers how genetic variants and chromosomal rearrangements within cREs impact gene expression and disease.

Keywords:
cis-regulatory elementGWAS-SNPsHi-Clong-range chromatin contact

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Area of Science:

  • Genomics
  • Epigenetics
  • Molecular Biology

Background:

  • Distal cis-regulatory elements (cREs) are vital for spatiotemporal gene expression.
  • Many cREs regulate genes over long genomic distances, necessitating study of cRE-promoter interactions.
  • Understanding these interactions is key to deciphering gene dysregulation in disease.

Purpose of the Study:

  • To review how 3D chromatin structure analysis aids in understanding the functional impact of cREs.
  • To explore how chromosomal rearrangements affecting topologically associating domains lead to pathogenic gene expression.

Main Methods:

  • Analysis of 3D chromatin structure.
  • Investigating long-range cis-regulatory element-promoter interactions.
  • Deciphering effects of genetic mutations and chromosomal rearrangements on gene expression.

Main Results:

  • Identification of long-range target genes reveals impacts of cRE mutations on gene expression.
  • Altered cRE-promoter interactions due to chromosomal rearrangements are linked to pathogenic gene expression.
  • 3D chromatin structure analysis provides insights into cRE function in disease.

Conclusions:

  • 3D chromatin structure analysis is a powerful tool for understanding cRE function.
  • Disruptions in topologically associating domains by chromosomal rearrangements can cause disease-related gene expression changes.
  • Functional characterization of cREs is essential for understanding genetic variant impacts.