Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome-Reference-Cited by-同舟云学术

Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome

Published:2014-02-28 Issue:6174 Volume:343 Page:1002-1005
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Colak Dilek¹,Zaninovic Nikica²,Cohen Michael S.¹,Rosenwaks Zev²,Yang Wang-Yong³,Gerhardt Jeannine⁴,Disney Matthew D.³,Jaffrey Samie R.¹

Affiliation:

1. Department of Pharmacology, Weill Cornell Medical College, Cornell University, New York, NY 10065, USA.

2. Center for Reproductive Medicine and Infertility, Weill Cornell Medical College, Cornell University, New York, NY 10065, USA.

3. Department of Chemistry, The Scripps Research Institute, Scripps Florida, Jupiter, FL 33458, USA.

4. Department of Cell Biology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

Abstract

Repeat Silencing Fragile X syndrome, a genetic cause of many cases of autism and mental retardation, involves expansion of a trinucleotide repeat in the fragile X mental retardation 1 (FMR1) gene. Working with human embryonic stem cells, Colak et al. (p. 1002 ) found that the expanded repeat region was transcribed into the untranslated region of FMR1 messenger RNA, which then bound to the DNA repeat region in the FMR1 gene, inactivating the gene. The findings explain how the trinucleotide repeat expansion causes RNA-directed gene silencing during development in fragile X syndrome.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference34 articles.

1. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

2. Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

3. Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 Gene in Fragile X Syndrome

4. Timing of the absence of FMR1 expression in full mutation chorionic villi

5. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

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