Aberrant methylation underlies insulin gene expression in human insulinoma

Nat Commun. 2020 Oct 15;11(1):5210. doi: 10.1038/s41467-020-18839-1.

Abstract

Human insulinomas are rare, benign, slowly proliferating, insulin-producing beta cell tumors that provide a molecular "recipe" or "roadmap" for pathways that control human beta cell regeneration. An earlier study revealed abnormal methylation in the imprinted p15.5-p15.4 region of chromosome 11, known to be abnormally methylated in another disorder of expanded beta cell mass and function: the focal variant of congenital hyperinsulinism. Here, we compare deep DNA methylome sequencing on 19 human insulinomas, and five sets of normal beta cells. We find a remarkably consistent, abnormal methylation pattern in insulinomas. The findings suggest that abnormal insulin (INS) promoter methylation and altered transcription factor expression create alternative drivers of INS expression, replacing canonical PDX1-driven beta cell specification with a pathological, looping, distal enhancer-based form of transcriptional regulation. Finally, NFaT transcription factors, rather than the canonical PDX1 enhancer complex, are predicted to drive INS transactivation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Binding Sites
  • Computational Biology
  • DNA Methylation
  • Female
  • Gene Expression Regulation, Neoplastic*
  • Homeodomain Proteins / metabolism
  • Humans
  • Insulin / genetics*
  • Insulin / metabolism*
  • Insulin-Secreting Cells / metabolism
  • Insulinoma / genetics*
  • Insulinoma / metabolism*
  • Male
  • Metabolic Diseases / genetics
  • Metabolic Diseases / metabolism
  • Middle Aged
  • Pancreatic Neoplasms / genetics*
  • Pancreatic Neoplasms / metabolism*
  • Promoter Regions, Genetic
  • Trans-Activators / metabolism
  • Transcription Factors / chemistry
  • Transcription Factors / metabolism
  • Young Adult

Substances

  • Homeodomain Proteins
  • Insulin
  • Trans-Activators
  • Transcription Factors
  • pancreatic and duodenal homeobox 1 protein