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
Celljournal_title
Cellauthors
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 RJdoi
10.1016/j.cell.2010.09.023subject
Has Abstractpub_date
2010-10-29 00:00:00pages
367-78issue
3eissn
0092-8674issn
1097-4172pii
S0092-8674(10)01071-8journal_volume
143pub_type
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