Title | Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Colak D, Zaninovic N, Cohen MS, Rosenwaks Z, Yang W-Y, Gerhardt J, Disney MD, Jaffrey SR |
Journal | Science |
Volume | 343 |
Issue | 6174 |
Pagination | 1002-5 |
Date Published | 2014 Feb 28 |
ISSN | 1095-9203 |
Keywords | 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 |
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. |
DOI | 10.1126/science.1245831 |
Alternate Journal | Science |
PubMed ID | 24578575 |
PubMed Central ID | PMC4357282 |
Grant List | R01 MH80420 / MH / NIMH NIH HHS / United States R01 NS056306 / NS / NINDS NIH HHS / United States R21 NS087859 / NS / NINDS NIH HHS / United States R01 GM079235 / GM / NIGMS NIH HHS / United States R01 MH080420 / MH / NIMH NIH HHS / United States |