Law2010 Data: A SNF2 protein targets variable copy number repeats and thereby influences allele-specific expression

By (Secondary Ownership. The experiment uses only third-party data.)

This is an independent reanalysis of the data published by Law et al.

Abstract from PubMed:

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.
ChIP-seq blood / haematopoiesis transcription factors
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Input Data

Sample Groups and Experimental Factors

Genome Snapshots

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ATRX-Binding in GAS8 Locus

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