The epigenetic regulator Mll1 is required for Wnt-driven intestinal tumorigenesis and cancer stemness

Nat Commun. 2020 Dec 21;11(1):6422. doi: 10.1038/s41467-020-20222-z.

Abstract

Wnt/β-catenin signaling is crucial for intestinal carcinogenesis and the maintenance of intestinal cancer stem cells. Here we identify the histone methyltransferase Mll1 as a regulator of Wnt-driven intestinal cancer. Mll1 is highly expressed in Lgr5+ stem cells and human colon carcinomas with increased nuclear β-catenin. High levels of MLL1 are associated with poor survival of colon cancer patients. The genetic ablation of Mll1 in mice prevents Wnt/β-catenin-driven adenoma formation from Lgr5+ intestinal stem cells. Ablation of Mll1 decreases the self-renewal of human colon cancer spheres and halts tumor growth of xenografts. Mll1 controls the expression of stem cell genes including the Wnt/β-catenin target gene Lgr5. Upon the loss of Mll1, histone methylation at the stem cell promoters switches from activating H3K4 tri-methylation to repressive H3K27 tri-methylation, indicating that Mll1 sustains stem cell gene expression by antagonizing gene silencing through polycomb repressive complex 2 (PRC2)-mediated H3K27 tri-methylation. Transcriptome profiling of Wnt-mutated intestinal tumor-initiating cells reveals that Mll1 regulates Gata4/6 transcription factors, known to sustain cancer stemness and to control goblet cell differentiation. Our results demonstrate that Mll1 is an essential epigenetic regulator of Wnt/β-catenin-induced intestinal tumorigenesis and cancer stemness.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Carcinogenesis / genetics*
  • Carcinogenesis / pathology
  • Cell Differentiation
  • Cell Line, Tumor
  • Colonic Neoplasms / genetics
  • Colonic Neoplasms / pathology
  • Epigenesis, Genetic*
  • Gene Expression Regulation, Neoplastic
  • HEK293 Cells
  • Histone-Lysine N-Methyltransferase / metabolism*
  • Histones / metabolism
  • Humans
  • Intestines / pathology
  • Lysine / metabolism
  • Methylation
  • Mice, Nude
  • Myeloid-Lymphoid Leukemia Protein / metabolism*
  • Neoplastic Stem Cells / metabolism*
  • Neoplastic Stem Cells / pathology
  • Polycomb Repressive Complex 2 / metabolism
  • Receptors, G-Protein-Coupled / metabolism
  • Up-Regulation / genetics
  • Wnt Signaling Pathway* / genetics
  • beta Catenin / metabolism

Substances

  • Histones
  • KMT2A protein, human
  • LGR5 protein, human
  • Receptors, G-Protein-Coupled
  • beta Catenin
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • Polycomb Repressive Complex 2
  • Lysine