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Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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Related Experiment Video

Updated: Jun 18, 2026

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Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter

Karen M Lower1, Jim R Hughes, Marco De Gobbi

  • 1Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford, OX3 9DS, United Kingdom.

Proceedings of the National Academy of Sciences of the United States of America
|December 5, 2009
PubMed
Summary
This summary is machine-generated.

Gene regulation extends beyond expected boundaries. Activating alpha-globin genes influences distant genes like NME4 through physical interactions, challenging traditional genome organization models.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Gene Regulation

Background:

  • The cis-acting sequences for human alpha-globin expression are localized within a 120 kb region.
  • Gene regulation is often assumed to occur within discrete, insulated genomic domains.

Purpose of the Study:

  • To investigate the impact of alpha-globin gene cluster activation on surrounding genes.
  • To explore the mechanisms of gene expression changes in cis-regulatory interactions.
  • To examine the role of structural variations in gene regulation.

Main Methods:

  • Analysis of gene expression changes in erythroid cells upon alpha-globin cluster activation.
  • Chromatin conformation capture techniques to identify cis-interactions.
  • Investigation of polymorphic structural variations within the alpha-globin cluster.

Main Results:

  • Activation of the alpha-globin cluster significantly altered the expression of noncontiguous genes, including NME4, located 300 kb away.
  • Physical cis-interactions were identified between NME4 and alpha-globin regulatory elements.
  • Polymorphic variations in the alpha-globin cluster modulated NME4 expression by affecting competition for regulatory elements.

Conclusions:

  • The genome is not strictly organized into discrete, insulated regulatory domains.
  • Gene regulation can be influenced by long-range cis-interactions, challenging established models.
  • Findings have implications for genome evolution, expression analysis, and copy number variant studies.