PAX6 maintains β cell identity by repressing genes of alternative islet cell types

J Clin Invest. 2017 Jan 3;127(1):230-243. doi: 10.1172/JCI88015. Epub 2016 Dec 12.

Abstract

Type 2 diabetes is thought to involve a compromised β cell differentiation state, but the mechanisms underlying this dysfunction remain unclear. Here, we report a key role for the TF PAX6 in the maintenance of adult β cell identity and function. PAX6 was downregulated in β cells of diabetic db/db mice and in WT mice treated with an insulin receptor antagonist, revealing metabolic control of expression. Deletion of Pax6 in β cells of adult mice led to lethal hyperglycemia and ketosis that were attributed to loss of β cell function and expansion of α cells. Lineage-tracing, transcriptome, and chromatin analyses showed that PAX6 is a direct activator of β cell genes, thus maintaining mature β cell function and identity. In parallel, we found that PAX6 binds promoters and enhancers to repress alternative islet cell genes including ghrelin, glucagon, and somatostatin. Chromatin analysis and shRNA-mediated gene suppression experiments indicated a similar function of PAX6 in human β cells. We conclude that reduced expression of PAX6 in metabolically stressed β cells may contribute to β cell failure and α cell dysfunction in diabetes.

Publication types

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

MeSH terms

  • Animals
  • Diabetes Mellitus, Experimental / genetics
  • Diabetes Mellitus, Experimental / metabolism*
  • Diabetes Mellitus, Experimental / pathology
  • Diabetic Ketoacidosis / genetics
  • Diabetic Ketoacidosis / metabolism*
  • Diabetic Ketoacidosis / pathology
  • Enhancer Elements, Genetic
  • Gene Deletion
  • Gene Expression Regulation
  • Glucagon-Secreting Cells / metabolism*
  • Glucagon-Secreting Cells / pathology
  • Hyperglycemia / genetics
  • Hyperglycemia / metabolism*
  • Hyperglycemia / pathology
  • Insulin-Secreting Cells / metabolism*
  • Insulin-Secreting Cells / pathology
  • Mice
  • Mice, Transgenic
  • PAX6 Transcription Factor / biosynthesis*
  • PAX6 Transcription Factor / genetics

Substances

  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Pax6 protein, mouse