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Related Experiment Video

Updated: Jun 16, 2026

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
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Published on: September 1, 2019

Long-range enhancers on 8q24 regulate c-Myc.

Jose Sotelo1, Dominic Esposito, Maria Ana Duhagon

  • 1Laboratory of Molecular Technology, National Cancer Institute-Frederick, Frederick, MD 21702, USA.

Proceedings of the National Academy of Sciences of the United States of America
|February 6, 2010
PubMed
Summary

Genetic variants near the Myc gene on chromosome 8q24 influence cancer risk by altering gene regulation. These variants affect Myc expression through enhancer elements, impacting susceptibility to prostate, colorectal, and breast cancers.

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Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
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Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions
10:16

Promoter Capture Hi-C: High-resolution, Genome-wide Profiling of Promoter Interactions

Published on: June 28, 2018

Area of Science:

  • Genetics
  • Cancer Biology
  • Molecular Oncology

Background:

  • Genome-wide association studies identify genetic variants on chromosome 8q24 linked to increased prostate, colorectal, and breast cancer susceptibility.
  • These risk loci reside in a gene desert region, telomeric to the Myc gene, with unclear biological mechanisms.
  • Speculation suggests these variants may impact Myc gene expression, affecting cancer risk.

Purpose of the Study:

  • To elucidate the biological mechanisms underlying the association between 8q24 genetic variants and cancer susceptibility.
  • To investigate the role of the 8q24 region in regulating Myc gene expression.
  • To identify specific enhancer elements and their interactions with the Myc gene.

Main Methods:

  • Analysis of enhancer elements within the 8q24 region.
  • Investigation of transcriptional regulation of the Myc gene.
  • Demonstration of physical interaction between enhancer elements and the Myc promoter using Tcf-4 transcription factor binding assays.
  • Allele-specific expression analysis.

Main Results:

  • Multiple enhancer elements were identified in the 8q24 region capable of regulating Myc transcription.
  • A specific enhancer element was shown to physically interact with the Myc promoter.
  • Transcription factor Tcf-4 binding is involved in the interaction between the enhancer and the Myc promoter.
  • The enhancer element acts in an allele-specific manner to regulate Myc expression.

Conclusions:

  • The 8q24 genetic variants associated with cancer risk likely function by altering the regulatory control of the Myc gene.
  • Enhancer elements in the 8q24 gene desert play a crucial role in Myc gene regulation.
  • Allele-specific regulation of Myc expression by these enhancers provides a mechanism for increased cancer susceptibility.