期刊
CELL
卷 143, 期 3, 页码 367-378出版社
CELL PRESS
DOI: 10.1016/j.cell.2010.09.023
关键词
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资金
- Medical Research Council
- National Institute of Health Biomedical Research Centre
- Thailand Research Fund (TRF)
- BIOTEC, Thailand
- Oxford University
- MRC [MC_U105184333, MC_U137961147] Funding Source: UKRI
- Medical Research Council [G1000801b, MC_U137961147, MC_U105184333, G1000801j] Funding Source: researchfish
ATRX is an X-linked gene of the SWI/SNF family, mutations in which cause syndromal mental retardation and downregulation of a-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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