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Journal article

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

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 p...

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Publication status:
Published

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Publisher copy:
10.1016/j.cell.2010.09.023

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
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Journal:
Cell
Volume:
143
Issue:
3
Pages:
367-378
Publication date:
2010-10-01
DOI:
EISSN:
1097-4172
ISSN:
0092-8674
Source identifiers:
93163
Language:
English
Keywords:
Pubs id:
pubs:93163
UUID:
uuid:aba489cc-7180-492a-9321-641e4e88e52d
Local pid:
pubs:93163
Deposit date:
2012-12-19

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