rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2010-10-29
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pubmed:databankReference |
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pubmed:abstractText |
ATRX is an X-linked gene of the SWI/SNF family, mutations in which cause syndromal mental retardation and downregulation of ?-globin expression. Here we show that ATRX binds to tandem repeat (TR) sequences in both telomeres and euchromatin. Genes associated with these TRs can be dysregulated when ATRX is mutated, and the change in expression is determined by the size of the TR, producing skewed allelic expression. This reveals the characteristics of the affected genes, explains the variable phenotypes seen with identical ATRX mutations, and illustrates a new mechanism underlying variable penetrance. Many of the TRs are G rich and predicted to form non-B DNA structures (including G-quadruplex) in vivo. We show that ATRX binds G-quadruplex structures in vitro, suggesting a mechanism by which ATRX may play a role in various nuclear processes and how this is perturbed when ATRX is mutated.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1097-4172
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pubmed:author |
pubmed-author:AbbottAaronA,
pubmed-author:AyyubHelenaH,
pubmed-author:CrossJoeJ,
pubmed-author:De GobbiMarcoM,
pubmed-author:DunhamIanI,
pubmed-author:GarrickDavidD,
pubmed-author:GibbonsRichard JRJ,
pubmed-author:HiggsDouglas RDR,
pubmed-author:HughesJim RJR,
pubmed-author:JonesStevenS,
pubmed-author:LawMartin JMJ,
pubmed-author:LowerKaren MKM,
pubmed-author:MitsonMatthewM,
pubmed-author:MorrisAndrewA,
pubmed-author:POYR KRK,
pubmed-author:RagoussisJiannisJ,
pubmed-author:RhodesDanielaD,
pubmed-author:SantosGuilherme MGM,
pubmed-author:TaylorStephenS,
pubmed-author:ViprakasitVipV,
pubmed-author:VoonHsiao P JHP,
pubmed-author:WilderSteven PSP
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pubmed:copyrightInfo |
Copyright © 2010 Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:day |
29
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pubmed:volume |
143
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
367-78
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pubmed:meshHeading |
pubmed-meshheading:21029860-Animals,
pubmed-meshheading:21029860-Cells, Cultured,
pubmed-meshheading:21029860-Chromatin Immunoprecipitation,
pubmed-meshheading:21029860-Chromosomes, Mammalian,
pubmed-meshheading:21029860-CpG Islands,
pubmed-meshheading:21029860-DNA, Ribosomal,
pubmed-meshheading:21029860-DNA Helicases,
pubmed-meshheading:21029860-G-Quadruplexes,
pubmed-meshheading:21029860-Gene Expression,
pubmed-meshheading:21029860-Genome-Wide Association Study,
pubmed-meshheading:21029860-Histones,
pubmed-meshheading:21029860-Humans,
pubmed-meshheading:21029860-Mice,
pubmed-meshheading:21029860-Minisatellite Repeats,
pubmed-meshheading:21029860-Mutation,
pubmed-meshheading:21029860-Nuclear Proteins,
pubmed-meshheading:21029860-Telomere
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pubmed:year |
2010
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pubmed:articleTitle |
ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.
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pubmed:affiliation |
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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