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Tumor-associated zinc finger mutations in the CTCF transcription factor selectively alter tts DNA-binding specificity

Galina N Filippova1, Chen-Feng Qi, Jonathan E Ulmer

  • 1Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

Cancer Research
|January 10, 2002
PubMed

Insights

CTCF mutations in cancer alter gene regulation without causing complete loss of function. These specific changes suggest CTCF acts as a tumor suppressor with a modified role in certain cancers.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Research

Background:

  • CCCTC-binding factor (CTCF) is a crucial transcription factor regulating gene expression, chromatin insulation, and genomic imprinting.
  • CTCF's role in regulating oncogenes and tumor suppressor genes makes it a candidate for cancer-related mutations.

Purpose of the Study:

  • To investigate mutations in the CTCF gene within human tumor samples.
  • To determine if identified mutations affect CTCF's DNA binding activity and gene regulatory functions.

Main Methods:

  • Screening of over 100 human tumor samples for CTCF mutations.
  • Analysis of missense mutations within the zinc finger (ZF) domain of CTCF.
  • Assessment of CTCF binding affinity to target gene regulatory sequences.

Main Results:

  • No truncating CTCF mutations were found; however, four distinct somatic missense mutations in the ZF domain were identified in breast, prostate, and Wilms' tumors.
  • Each mutation selectively impaired CTCF binding to specific target sites involved in cell proliferation gene regulation.
  • Binding to other CTCF target sites remained unaffected, indicating a partial loss of function.

Conclusions:

  • CTCF mutations can lead to a "change of function" rather than a complete "loss of function" in tumor cells.
  • CTCF may act as a novel tumor suppressor gene, with its altered activity contributing to specific cancer types.

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