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 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.

journal_name

Cell

journal_title

Cell

authors

Law MJ,Lower KM,Voon HP,Hughes JR,Garrick D,Viprakasit V,Mitson M,De Gobbi M,Marra M,Morris A,Abbott A,Wilder SP,Taylor S,Santos GM,Cross J,Ayyub H,Jones S,Ragoussis J,Rhodes D,Dunham I,Higgs DR,Gibbons RJ

doi

10.1016/j.cell.2010.09.023

subject

Has Abstract

pub_date

2010-10-29 00:00:00

pages

367-78

issue

3

eissn

0092-8674

issn

1097-4172

pii

S0092-8674(10)01071-8

journal_volume

143

pub_type

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