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Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome

Academic Article
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Overview

authors

  • Colak, D.
  • Zaninovic, N.
  • Cohen, M. S.
  • Rosenwaks, Z.
  • Yang, W. Y.
  • Gerhardt, J.
  • Disney, Matthew
  • Jaffrey, S. R.

publication date

  • February 2014

journal

  • Science  Journal

abstract

  • Epigenetic gene silencing is seen in several repeat-expansion diseases. In fragile X syndrome, the most common genetic form of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X mental retardation 1 (FMR1) gene promoter results in its epigenetic silencing. Here, we show that FMR1 silencing is mediated by the FMR1 mRNA. The FMR1 mRNA contains the transcribed CGG-repeat tract as part of the 5' untranslated region, which hybridizes to the complementary CGG-repeat portion of the FMR1 gene to form an RNA·DNA duplex. Disrupting the interaction of the mRNA with the CGG-repeat portion of the FMR1 gene prevents promoter silencing. Thus, our data link trinucleotide-repeat expansion to a form of RNA-directed gene silencing mediated by direct interactions of the trinucleotide-repeat RNA and DNA.

subject areas

  • Animals
  • Cell Line
  • DNA Methylation
  • Embryonic Stem Cells
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome
  • Gene Silencing
  • Humans
  • Mice
  • Mice, Inbred NOD
  • Mice, SCID
  • Neurons
  • Nuclear Proteins
  • Promoter Regions, Genetic
  • RNA, Messenger
  • RNA, Small Interfering
  • Trinucleotide Repeats
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Identity

PubMed Central ID

  • PMC4357282

International Standard Serial Number (ISSN)

  • 0036-8075

Digital Object Identifier (DOI)

  • 10.1126/science.1245831

PubMed ID

  • 24578575
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Additional Document Info

start page

  • 1002

end page

  • 1005

volume

  • 343

issue

  • 6174

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