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Title: ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner
Authors: Martin J. Law
Karen M. Lower
Hsiao P.J. Voon
Jim R. Hughes
David Garrick
Vip Viprakasit
Matthew Mitson
Marco De Gobbi
Marco Marra
Andrew Morris
Aaron Abbott
Steven P. Wilder
Stephen Taylor
Guilherme M. Santos
Joe Cross
Helena Ayyub
Steven Jones
Jiannis Ragoussis
Daniela Rhodes
Ian Dunham
Douglas R. Higgs
Richard J. Gibbons
John Radcliffe Hospital
Mahidol University
Wellcome Trust Centre for Human Genetics
Wellcome Trust
The Medical Research Council Laboratory of Molecular Biology
The University of British Columbia
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 29-Oct-2010
Citation: Cell. Vol.143, No.3 (2010), 367-378
Abstract: ATRX is an X-linked gene of the SWI/SNF family, mutations in which cause syndromal mental retardation and downregulation of α-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. © 2010 Elsevier Inc.
ISSN: 00928674
Appears in Collections:Scopus 2006-2010

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