CTCF/cohesin-mediated DNA looping is required for protocadherin α promoter choice

Proc Natl Acad Sci U S A. 2012 Dec 18;109(51):21081-6. doi: 10.1073/pnas.1219280110. Epub 2012 Nov 30.

Abstract

The closely linked human protocadherin (Pcdh) α, β, and γ gene clusters encode 53 distinct protein isoforms, which are expressed in a combinatorial manner to generate enormous diversity on the surface of individual neurons. This diversity is a consequence of stochastic promoter choice and alternative pre-mRNA processing. Here, we show that Pcdhα promoter choice is achieved by DNA looping between two downstream transcriptional enhancers and individual promoters driving the expression of alternate Pcdhα isoforms. In addition, we show that this DNA looping requires specific binding of the CTCF/cohesin complex to two symmetrically aligned binding sites in both the transcriptionally active promoters and in one of the enhancers. These findings have important implications regarding enhancer/promoter interactions in the generation of complex Pcdh cell surface codes for the establishment of neuronal identity and self-avoidance in individual neurons.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • CCCTC-Binding Factor
  • Cadherins / genetics*
  • Cell Cycle Proteins / chemistry*
  • Cell Line
  • Chromatin / metabolism
  • Chromosomal Proteins, Non-Histone / chemistry*
  • Cohesins
  • CpG Islands
  • DNA / chemistry*
  • DNA-Binding Proteins
  • Epigenesis, Genetic
  • Gene Expression Regulation*
  • Humans
  • Models, Biological
  • Models, Genetic
  • Neurons / metabolism
  • Nuclear Proteins / metabolism
  • Phosphoproteins / metabolism
  • Promoter Regions, Genetic*
  • Protein Isoforms
  • Repressor Proteins / metabolism*
  • Stochastic Processes
  • Transcription, Genetic

Substances

  • CCCTC-Binding Factor
  • CTCF protein, human
  • Cadherins
  • Cell Cycle Proteins
  • Chromatin
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Phosphoproteins
  • Protein Isoforms
  • RAD21 protein, human
  • Repressor Proteins
  • DNA