The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome

Nat Genet. 2014 Jun;46(6):551-7. doi: 10.1038/ng.2968. Epub 2014 May 11.

Abstract

Parental imprinting is a form of epigenetic regulation that results in parent-of-origin differential gene expression. To study Prader-Willi syndrome (PWS), a developmental imprinting disorder, we generated case-derived induced pluripotent stem cells (iPSCs) harboring distinct aberrations in the affected region on chromosome 15. In studying PWS-iPSCs and human parthenogenetic iPSCs, we unexpectedly found substantial upregulation of virtually all maternally expressed genes (MEGs) in the imprinted DLK1-DIO3 locus on chromosome 14. Subsequently, we determined that IPW, a long noncoding RNA in the critical region of the PWS locus, is a regulator of the DLK1-DIO3 region, as its overexpression in PWS and parthenogenetic iPSCs resulted in downregulation of MEGs in this locus. We further show that gene expression changes in the DLK1-DIO3 region coincide with chromatin modifications rather than DNA methylation levels. Our results suggest that a subset of PWS phenotypes may arise from dysregulation of an imprinted locus distinct from the PWS region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Brain / metabolism
  • Calcium-Binding Proteins
  • Chromatin / metabolism
  • Chromosome Aberrations
  • DNA Methylation
  • Down-Regulation
  • Fibroblasts / metabolism
  • Gene Expression Profiling
  • Genome-Wide Association Study
  • Genomic Imprinting
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Infant
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Iodide Peroxidase / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Phenotype
  • Prader-Willi Syndrome / genetics*
  • RNA, Untranslated / genetics*
  • Transcription, Genetic
  • Transcriptome

Substances

  • Calcium-Binding Proteins
  • Chromatin
  • DLK1 protein, human
  • Intercellular Signaling Peptides and Proteins
  • Membrane Proteins
  • RNA, Untranslated
  • iodothyronine deiodinase type III
  • Iodide Peroxidase

Associated data

  • GEO/GSE56136