The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression

Nat Commun. 2017 Feb 14:8:14418. doi: 10.1038/ncomms14418.

Abstract

Genome-wide association studies have identified a great number of non-coding risk variants for colorectal cancer (CRC). To date, the majority of these variants have not been functionally studied. Identification of allele-specific transcription factor (TF) binding is of great importance to understand regulatory consequences of such variants. A recently developed proteome-wide analysis of disease-associated SNPs (PWAS) enables identification of TF-DNA interactions in an unbiased manner. Here we perform a large-scale PWAS study to comprehensively characterize TF-binding landscape that is associated with CRC, which identifies 731 allele-specific TF binding at 116 CRC risk loci. This screen identifies the A-allele of rs1800734 within the promoter region of MLH1 as perturbing the binding of TFAP4 and consequently increasing DCLK3 expression through a long-range interaction, which promotes cancer malignancy through enhancing expression of the genes related to epithelial-to-mesenchymal transition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • CRISPR-Cas Systems
  • Cell Line, Tumor
  • Colonic Neoplasms / genetics*
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / metabolism
  • DNA Methylation
  • DNA-Binding Proteins
  • Disease Progression*
  • Doublecortin-Like Kinases
  • Epigenesis, Genetic
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Intracellular Signaling Peptides and Proteins / metabolism*
  • MutL Protein Homolog 1 / genetics
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Protein Serine-Threonine Kinases / genetics*
  • Protein Serine-Threonine Kinases / metabolism*
  • Proteome
  • Proteomics
  • Transcription Factors

Substances

  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • MLH1 protein, human
  • Proteome
  • Transcription Factors
  • DCLK1 protein, human
  • Doublecortin-Like Kinases
  • Protein Serine-Threonine Kinases
  • MutL Protein Homolog 1