CTCF and BORIS in genome regulation and cancer

Curr Opin Genet Dev. 2014 Feb:24:8-15. doi: 10.1016/j.gde.2013.10.011. Epub 2013 Dec 14.

Abstract

CTCF plays a vital role in chromatin structure and function. CTCF is ubiquitously expressed and plays diverse roles in gene regulation, imprinting, insulation, intra/interchromosomal interactions, nuclear compartmentalisation, and alternative splicing. CTCF has a single paralogue, the testes-specific CTCF-like gene (CTCFL)/BORIS. CTCF and BORIS can be deregulated in cancer. The tumour suppressor gene CTCF can be mutated or deleted in cancer, or CTCF DNA binding can be altered by epigenetic changes. BORIS is aberrantly expressed frequently in cancer, leading some to propose a pro-tumourigenic role for BORIS. However, BORIS can inhibit cell proliferation, and is mutated in cancer similarly to CTCF suggesting BORIS activation in cancer may be due to global genetic or epigenetic changes typical of malignant transformation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • CCCTC-Binding Factor
  • DNA-Binding Proteins / metabolism*
  • Gene Expression Regulation, Neoplastic*
  • Genome*
  • Humans
  • Neoplasms / genetics*
  • Protein Binding
  • Repressor Proteins / metabolism*

Substances

  • CCCTC-Binding Factor
  • CTCF protein, human
  • CTCFL protein, human
  • DNA-Binding Proteins
  • Repressor Proteins