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

Y Stelzer, I Sagi, O Yanuka, R Eiges, N Benvenisty - Nature genetics, 2014 - nature.com
Y Stelzer, I Sagi, O Yanuka, R Eiges, N Benvenisty
Nature genetics, 2014nature.com
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 …
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.
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