CTCF/cohesin-binding sites are frequently mutated in cancer

Nat Genet. 2015 Jul;47(7):818-21. doi: 10.1038/ng.3335. Epub 2015 Jun 8.

Abstract

Cohesin is present in almost all active enhancer regions, where it is associated with transcription factors. Cohesin frequently colocalizes with CTCF (CCCTC-binding factor), affecting genomic stability, expression and epigenetic homeostasis. Cohesin subunits are mutated in cancer, but CTCF/cohesin-binding sites (CBSs) in DNA have not been examined for mutations. Here we report frequent mutations at CBSs in cancers displaying a mutational signature where mutations in A•T base pairs predominate. Integration of whole-genome sequencing data from 213 colorectal cancer (CRC) samples and chromatin immunoprecipitation sequencing (ChIP-exo) data identified frequent point mutations at CBSs. In contrast, CRCs showing an ultramutator phenotype caused by defects in the exonuclease domain of DNA polymerase ɛ (POLE) displayed significantly fewer mutations at and adjacent to CBSs. Analysis of public data showed that multiple cancer types accumulate CBS mutations. CBSs are a major mutational hotspot in the noncoding cancer genome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Binding Sites
  • CCCTC-Binding Factor
  • Cell Cycle Proteins / physiology*
  • Chromosomal Proteins, Non-Histone / physiology*
  • Cohesins
  • Colorectal Neoplasms
  • Consensus Sequence
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Point Mutation
  • Regulatory Sequences, Nucleic Acid
  • Repressor Proteins / physiology*

Substances

  • CCCTC-Binding Factor
  • CTCF protein, human
  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • Repressor Proteins