Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes

Nat Commun. 2010 Jul 27:1:40. doi: 10.1038/ncomms1040.

Abstract

Processed pseudogenes are non-functional copies of normal genes that arise by a process of mRNA retrotransposition. The human genome contains thousands of pseudogenes; however, knowledge regarding their biological role is limited. Previously, we demonstrated that high mobility group A1 (HMGA1) protein regulates the insulin receptor (INSR) gene and that two diabetic patients demonstrated a marked destabilization of HMGA1 mRNA. In this paper we report that this destabilization of HMGA1 mRNA is triggered by enhanced expression of RNA from an HMGA1 pseudogene, HMGA1-p. Targeted knockdown of HMGA1-p mRNA in patient cells results in a reciprocal increase in HMGA1 mRNA stability and expression levels with a parallel correction in cell-surface INSR expression and insulin binding. These data provide evidence for a regulatory role of an expressed pseudogene in humans and establishes a novel mechanistic linkage between pseudogene HMGA1-p expression and type 2 diabetes mellitus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics
  • Animals
  • Antigens, CD / genetics
  • Antigens, CD / metabolism
  • Blotting, Northern
  • Cell Line
  • Cells, Cultured
  • Diabetes Mellitus, Type 2 / genetics*
  • Electrophoretic Mobility Shift Assay
  • Gene Silencing
  • HEK293 Cells
  • HMGA Proteins / genetics
  • HMGA Proteins / metabolism*
  • HeLa Cells
  • Humans
  • Insulin Resistance / genetics*
  • Insulin Resistance / physiology
  • Mice
  • Models, Biological
  • Molecular Sequence Data
  • Pseudogenes / genetics*
  • Receptor, Insulin / genetics
  • Receptor, Insulin / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • 3' Untranslated Regions
  • Antigens, CD
  • HMGA Proteins
  • INSR protein, human
  • Receptor, Insulin

Associated data

  • GENBANK/AC005041
  • RefSeq/NM_145899
  • RefSeq/NM_145903
  • RefSeq/NT_007592