CTCF-dependent enhancer-blocking by alternative chromatin loop formation

Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20398-403. doi: 10.1073/pnas.0808506106. Epub 2008 Dec 12.

Abstract

The mechanism underlying enhancer-blocking by insulators is unclear. We explored the activity of human beta-globin HS5, the orthologue of the CTCF-dependent chicken HS4 insulator. An extra copy of HS5 placed between the beta-globin locus control region (LCR) and downstream genes on a transgene fulfills the classic predictions for an enhancer-blocker. Ectopic HS5 does not perturb the LCR but blocks gene activation by interfering with RNA pol II, activator and coactivator recruitment, and epigenetic modification at the downstream beta-globin gene. Underlying these effects, ectopic HS5 disrupts chromatin loop formation between beta-globin and the LCR, and instead forms a new loop with endogenous HS5 that topologically isolates the LCR. Both enhancer-blocking and insulator-loop formation depend on an intact CTCF site in ectopic HS5 and are sensitive to knock-down of the CTCF protein by siRNA. Thus, intrinsic looping activity of CTCF sites can nullify LCR function.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • CCCTC-Binding Factor
  • Chromatin / genetics
  • Chromatin / ultrastructure*
  • DNA-Binding Proteins / physiology*
  • Epigenesis, Genetic*
  • Gene Expression Regulation
  • Humans
  • Insulator Elements*
  • Locus Control Region
  • Repressor Proteins / physiology*
  • Transgenes
  • beta-Globins

Substances

  • CCCTC-Binding Factor
  • CTCF protein, human
  • Chromatin
  • DNA-Binding Proteins
  • Repressor Proteins
  • beta-Globins