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Comparative analysis of the ATRX promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular function

Tang, Paisu; Frankenberg, Stephen; Argentaro, Anthony; Graves, Jennifer M; Familari, Mary

Description

BACKGROUND ATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked recessive developmental disorder resulting in severe mental retardation and mild alpha-thalassemia with facial, skeletal and genital abnormalities. Although ubiquitously expressed the clinical features of the syndrome indicate that ATRX is not likely to be a global regulator of gene expression but involved in regulating specific...[Show more]

CollectionsANU Research Publications
Date published: 2011-06-15
Type: Journal article
URI: http://hdl.handle.net/1885/17020
Source: BMC Research Notes
DOI: 10.1186/1756-0500-4-200

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