Nkx2.2 repressor complex regulates islet β-cell specification and prevents β-to-α-cell reprogramming

Genes Dev. 2011 Nov 1;25(21):2291-305. doi: 10.1101/gad.173039.111.

Abstract

Regulation of cell differentiation programs requires complex interactions between transcriptional and epigenetic networks. Elucidating the principal molecular events responsible for the establishment and maintenance of cell fate identities will provide important insights into how cell lineages are specified and maintained and will improve our ability to recapitulate cell differentiation events in vitro. In this study, we demonstrate that Nkx2.2 is part of a large repression complex in pancreatic β cells that includes DNMT3a, Grg3, and HDAC1. Mutation of the endogenous Nkx2.2 tinman (TN) domain in mice abolishes the interaction between Nkx2.2 and Grg3 and disrupts β-cell specification. Furthermore, we demonstrate that Nkx2.2 preferentially recruits Grg3 and HDAC1 to the methylated Aristaless homeobox gene (Arx) promoter in β cells. The Nkx2.2 TN mutation results in ectopic expression of Arx in β cells, causing β-to-α-cell transdifferentiation. A corresponding β-cell-specific deletion of DNMT3a is also sufficient to cause Arx-dependent β-to-α-cell reprogramming. Notably, subsequent removal of Arx in the β cells of Nkx2.2(TNmut/TNmut) mutant mice reverts the β-to-α-cell conversion, indicating that the repressor activities of Nkx2.2 on the methylated Arx promoter in β cells are the primary regulatory events required for maintaining β-cell identity.

Publication types

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

MeSH terms

  • Animals
  • Cell Differentiation
  • Co-Repressor Proteins
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA Methyltransferase 3A
  • Diabetes Mellitus / physiopathology
  • Gene Expression Regulation
  • Ghrelin / metabolism
  • Glucagon / metabolism
  • Glucagon-Secreting Cells / cytology*
  • Glucagon-Secreting Cells / metabolism
  • Homeobox Protein Nkx-2.2
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism*
  • Insulin / metabolism
  • Insulin-Secreting Cells / cytology*
  • Insulin-Secreting Cells / metabolism*
  • Mice
  • Mutation
  • Nuclear Proteins
  • Organ Specificity / genetics
  • Promoter Regions, Genetic
  • Protein Binding
  • Protein Structure, Tertiary
  • Proteins / metabolism
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Zebrafish Proteins

Substances

  • ARX protein, mouse
  • Co-Repressor Proteins
  • DNMT3A protein, human
  • Dnmt3a protein, mouse
  • Ghrelin
  • Homeobox Protein Nkx-2.2
  • Homeodomain Proteins
  • Insulin
  • NKX2-2 protein, human
  • Nkx2-2 protein, mouse
  • Nuclear Proteins
  • Proteins
  • Tle3 protein, mouse
  • Transcription Factors
  • Zebrafish Proteins
  • nkx2.2b protein, zebrafish
  • Glucagon
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A